共 50 条
[41]
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
[J].
Dorien Lugtenberg
;
Margot R F Reijnders
;
Michaela Fenckova
;
Emilia K Bijlsma
;
Raphael Bernier
;
Bregje W M van Bon
;
Eric Smeets
;
Anneke T Vulto-van Silfhout
;
Danielle Bosch
;
Evan E Eichler
;
Heather C Mefford
;
Gemma L Carvill
;
Ernie M H F Bongers
;
Janneke HM Schuurs-Hoeijmakers
;
Claudia A Ruivenkamp
;
Gijs W E Santen
;
Arn M J M van den Maagdenberg
;
Cacha M P C D Peeters-Scholte
;
Sabine Kuenen
;
Patrik Verstreken
;
Rolph Pfundt
;
Helger G Yntema
;
Petra F de Vries
;
Joris A Veltman
;
Alexander Hoischen
;
Christian Gilissen
;
Bert B A de Vries
;
Annette Schenck
;
Tjitske Kleefstra
;
Lisenka E L M Vissers
.
European Journal of Human Genetics,
2016, 24
:1145-1153

Dorien Lugtenberg
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Margot R F Reijnders
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Michaela Fenckova
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Emilia K Bijlsma
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Raphael Bernier
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Bregje W M van Bon
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Eric Smeets
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Anneke T Vulto-van Silfhout
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Danielle Bosch
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Evan E Eichler
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Heather C Mefford
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Gemma L Carvill
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Ernie M H F Bongers
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Janneke HM Schuurs-Hoeijmakers
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Claudia A Ruivenkamp
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Gijs W E Santen
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Arn M J M van den Maagdenberg
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Cacha M P C D Peeters-Scholte
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Sabine Kuenen
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Patrik Verstreken
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Rolph Pfundt
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Helger G Yntema
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Petra F de Vries
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Joris A Veltman
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Alexander Hoischen
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Christian Gilissen
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Bert B A de Vries
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Annette Schenck
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Tjitske Kleefstra
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics

Lisenka E L M Vissers
论文数: 0 引用数: 0
h-index: 0
机构: Radboud University Medical Center,Department of Human Genetics
[42]
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
[J].
Lugtenberg, Dorien
;
Reijnders, Margot R. F.
;
Fenckova, Michaela
;
Bijlsma, Emilia K.
;
Bernier, Raphael
;
van Bon, Bregje W. M.
;
Smeets, Eric
;
Vulto-van Silfhout, Anneke T.
;
Bosch, Danielle
;
Eichler, Evan E.
;
Mefford, Heather C.
;
Carvill, Gemma L.
;
Bongers, Ernie M. H. F.
;
Schuurs-Hoeijmakers, Janneke H. M.
;
Ruivenkamp, Claudia A.
;
Santen, Gijs W. E.
;
van den Maagdenberg, Arn M. J. M.
;
Peeters-Scholte, Cacha M. P. C. D.
;
Kuenen, Sabine
;
Verstreken, Patrik
;
Pfundt, Rolph
;
Yntema, Helger G.
;
de Vries, Petra F.
;
Veltman, Joris A.
;
Hoischen, Alexander
;
Gilissen, Christian
;
de Vries, Bert B. A.
;
Schenck, Annette
;
Kleefstra, Tjitske
;
Vissers, Lisenka E. L. M.
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2016, 24 (08)
:1145-1153

Lugtenberg, Dorien
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Reijnders, Margot R. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Fenckova, Michaela
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Bijlsma, Emilia K.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

论文数: 引用数:
h-index:
机构:

van Bon, Bregje W. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Smeets, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Vulto-van Silfhout, Anneke T.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Bosch, Danielle
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Eichler, Evan E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
Howard Hughes Med Inst, Seattle, WA USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Mefford, Heather C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Carvill, Gemma L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Bongers, Ernie M. H. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Schuurs-Hoeijmakers, Janneke H. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Ruivenkamp, Claudia A.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Santen, Gijs W. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

van den Maagdenberg, Arn M. J. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands
Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands
Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Peeters-Scholte, Cacha M. P. C. D.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Kuenen, Sabine
论文数: 0 引用数: 0
h-index: 0
机构:
VIB, Ctr Biol Dis, Leuven, Belgium
Katholieke Univ Leuven, Ctr Human Genet, LIND, Leuven, Belgium Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Verstreken, Patrik
论文数: 0 引用数: 0
h-index: 0
机构:
VIB, Ctr Biol Dis, Leuven, Belgium
Katholieke Univ Leuven, Ctr Human Genet, LIND, Leuven, Belgium Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Pfundt, Rolph
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Yntema, Helger G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

de Vries, Petra F.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Veltman, Joris A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
Maastricht Univ, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Hoischen, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Gilissen, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

de Vries, Bert B. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Schenck, Annette
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Kleefstra, Tjitske
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Vissers, Lisenka E. L. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
[43]
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability
[J].
Lam, Wayne W. K.
;
Millichap, John J.
;
Soares, Dinesh C.
;
Chin, Richard
;
McLellan, Ailsa
;
FitzPatrick, David R.
;
Elmslie, Frances
;
Lees, Melissa M.
;
Schaefer, G. Bradley
;
Abbott, Catherine M.
.
MOLECULAR GENETICS & GENOMIC MEDICINE,
2016, 4 (04)
:465-474

Lam, Wayne W. K.
论文数: 0 引用数: 0
h-index: 0
机构:
South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland
Univ Edinburgh, Western Gen Hosp, MRC Inst Genet & Mol Med, Ctr Genom & Expt Med, Crewe Rd, Edinburgh EH4 2XU, Midlothian, Scotland
Univ Edinburgh, Muir Maxwell Epilepsy Ctr, 20 Sylvan Pl, Edinburgh EH9 1UW, Midlothian, Scotland
Royal Hosp Sick Children, Paediat Neurosci, Sciennes Rd, Edinburgh EH9 1LF, Midlothian, Scotland South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland

Millichap, John J.
论文数: 0 引用数: 0
h-index: 0
机构:
Northwestern Univ, Feinberg Sch Med, Ann & Robert H Lurie Childrens Hosp Chicago, Epilepsy Ctr,Dept Pediat, 225 E Chicago Ave,Box 29, Chicago, IL 60611 USA
Northwestern Univ, Feinberg Sch Med, Ann & Robert H Lurie Childrens Hosp Chicago, Epilepsy Ctr,Dept Neurol, 225 E Chicago Ave,Box 29, Chicago, IL 60611 USA South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland

Soares, Dinesh C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, Western Gen Hosp, MRC Inst Genet & Mol Med, Ctr Genom & Expt Med, Crewe Rd, Edinburgh EH4 2XU, Midlothian, Scotland
Univ Edinburgh, Western Gen Hosp, MRC Inst Genet & Mol Med, MRC Human Genet Unit, Crewe Rd, Edinburgh EH4 2XU, Midlothian, Scotland South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland

论文数: 引用数:
h-index:
机构:

McLellan, Ailsa
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Hosp Sick Children, Paediat Neurosci, Sciennes Rd, Edinburgh EH9 1LF, Midlothian, Scotland South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland

FitzPatrick, David R.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Hosp Sick Children, Paediat Neurosci, Sciennes Rd, Edinburgh EH9 1LF, Midlothian, Scotland
Univ Edinburgh, Western Gen Hosp, MRC Inst Genet & Mol Med, MRC Human Genet Unit, Crewe Rd, Edinburgh EH4 2XU, Midlothian, Scotland South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland

Elmslie, Frances
论文数: 0 引用数: 0
h-index: 0
机构:
St George Hosp, South West Thames Reg Genet Serv, London, England South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland

Lees, Melissa M.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Dept Clin Genet, Great Ormond St, London, England South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland

Schaefer, G. Bradley
论文数: 0 引用数: 0
h-index: 0
机构:
Arkansas Childrens Hosp, Div Med Genet, Little Rock, AR USA South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland

Abbott, Catherine M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, Western Gen Hosp, MRC Inst Genet & Mol Med, Ctr Genom & Expt Med, Crewe Rd, Edinburgh EH4 2XU, Midlothian, Scotland
Univ Edinburgh, Muir Maxwell Epilepsy Ctr, 20 Sylvan Pl, Edinburgh EH9 1UW, Midlothian, Scotland South East Scotland Clin Genet Serv, Crewe Rd, Edinburgh, Midlothian, Scotland
[44]
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
[J].
Alma Kuechler
;
Marjolein H. Willemsen
;
Beate Albrecht
;
Carlos A. Bacino
;
Dennis W. Bartholomew
;
Hans van Bokhoven
;
Marie Jose H. van den Boogaard
;
Nuria Bramswig
;
Christian Büttner
;
Kirsten Cremer
;
Johanna Christina Czeschik
;
Hartmut Engels
;
Koen van Gassen
;
Elisabeth Graf
;
Mieke van Haelst
;
Weimin He
;
Jacob S. Hogue
;
Marlies Kempers
;
David Koolen
;
Glen Monroe
;
Sonja de Munnik
;
Matthew Pastore
;
André Reis
;
Miriam S. Reuter
;
David H. Tegay
;
Joris Veltman
;
Gepke Visser
;
Peter van Hasselt
;
Eric E. J. Smeets
;
Lisenka Vissers
;
Thomas Wieland
;
Willemijn Wissink
;
Helger Yntema
;
Alexander Michael Zink
;
Tim M. Strom
;
Hermann-Josef Lüdecke
;
Tjitske Kleefstra
;
Dagmar Wieczorek
.
Human Genetics,
2015, 134
:97-109

Alma Kuechler
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Marjolein H. Willemsen
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Beate Albrecht
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Carlos A. Bacino
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Dennis W. Bartholomew
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Hans van Bokhoven
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Marie Jose H. van den Boogaard
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Nuria Bramswig
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Christian Büttner
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Kirsten Cremer
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Johanna Christina Czeschik
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Hartmut Engels
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Koen van Gassen
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Elisabeth Graf
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Mieke van Haelst
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Weimin He
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Jacob S. Hogue
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Marlies Kempers
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

David Koolen
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Glen Monroe
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Sonja de Munnik
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Matthew Pastore
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

André Reis
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Miriam S. Reuter
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

David H. Tegay
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Joris Veltman
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Gepke Visser
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Peter van Hasselt
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Eric E. J. Smeets
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Lisenka Vissers
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Thomas Wieland
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Willemijn Wissink
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Helger Yntema
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Alexander Michael Zink
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Tim M. Strom
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Hermann-Josef Lüdecke
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Tjitske Kleefstra
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik

Dagmar Wieczorek
论文数: 0 引用数: 0
h-index: 0
机构: Universitätsklinikum Essen,Institut für Humangenetik
[45]
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
[J].
Schalk, Audrey
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Cousin, Margot A.
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Challman, Thomas D.
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Wain, Karen E.
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Powis, Zoe
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Minks, Kelly
;
Trimouille, Aurelien
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Lasseaux, Eulalie
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Lacombre, Didier
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Angelini, Chloe
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Michaud, Vincent
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Van-Gils, Julien
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Spataro, Nino
;
Ruiz, Anna
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Gabau, Elizabeth
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Stolerman, Elliot
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Washington, Camerun
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Louie, Raymond J.
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Lanpher, Brendan C.
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Kemppainen, Jennifer L.
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Innes, A. Micheil
;
Kooy, R. Frank
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Meuwissen, Marije
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Goldenberg, Alice
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Lecoquierre, Francois
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Vera, Gabriella
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Diderich, Karin E. M.
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Sheidley, Beth Rosen
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El Achkar, Christelle Moufawad
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Park, Meredith
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Hamdan, Fadi F.
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Michaud, Jacques L.
;
Lewis, Ann J.
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Zweier, Christiane
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Reis, Andre
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Wagner, Matias
;
Weigand, Heike
;
Journel, Hubert
;
Keren, Boris
;
Passemard, Sandrine
;
Mignot, Cyril
;
van Gassen, Koen L., I
;
Brilstra, Eva H.
;
Itzikowitz, Gina
;
O'Heir, Emily
;
Allen, Jake
;
Donald, Kirsten A.
;
Korf, Bruce R.
;
Skelton, Tammi
;
Thompson, Michelle L.
.
JOURNAL OF MEDICAL GENETICS,
2022, 59 (10)
:965-975

Schalk, Audrey
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Cousin, Margot A.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Quantitat Hlth Sci Res, Rochester, MN USA
Mayo Clin, Ctr Individualized Med, Rochester, MN USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Challman, Thomas D.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Genom Sci & Precis Med Ctr, Bioinformat Res & Dev Lab, Milwaukee, WI 53226 USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Wain, Karen E.
论文数: 0 引用数: 0
h-index: 0
机构:
Geisinger Lewistown Hosp, Autism & Dev Med Inst, Lewistown, PA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Powis, Zoe
论文数: 0 引用数: 0
h-index: 0
机构:
Geisinger Lewistown Hosp, Autism & Dev Med Inst, Lewistown, PA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Minks, Kelly
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet Corp, Dept Clin Genom, Aliso Viejo, CA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Trimouille, Aurelien
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet Corp, Dept Clin Genom, Aliso Viejo, CA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Lasseaux, Eulalie
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Ctr Reference Anomalies Dev & Syndrome Malformati, Serv Genet Med, Bordeaux, Aquitaine, France
Univ Bordeaux, Ctr Genom Fonct Bordeaux, INSERM U1211, Malad Rares Genet & Metab MRGM, Bordeaux, Nouvelle Aquita, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Lacombre, Didier
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Ctr Reference Anomalies Dev & Syndrome Malformati, Serv Genet Med, Bordeaux, Aquitaine, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Angelini, Chloe
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Ctr Reference Anomalies Dev & Syndrome Malformati, Serv Genet Med, Bordeaux, Aquitaine, France
Univ Bordeaux, Ctr Genom Fonct Bordeaux, INSERM U1211, Malad Rares Genet & Metab MRGM, Bordeaux, Nouvelle Aquita, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Michaud, Vincent
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Ctr Reference Anomalies Dev & Syndrome Malformati, Serv Genet Med, Bordeaux, Aquitaine, France
Univ Bordeaux, Ctr Genom Fonct Bordeaux, INSERM U1211, Malad Rares Genet & Metab MRGM, Bordeaux, Nouvelle Aquita, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Van-Gils, Julien
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Ctr Reference Anomalies Dev & Syndrome Malformati, Dept Genet Med, Bordeaux, Aquitaine, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Spataro, Nino
论文数: 0 引用数: 0
h-index: 0
机构:
Parc Tauli Hosp Univ, Genet Lab, Inst Invest & Innovacio Parc Tauli, UDIAT Ctr Diagnost, Sabadell, Catalunya, Spain Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Ruiz, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Parc Tauli Hosp Univ, Genet Lab, Inst Invest & Innovacio Parc Tauli, UDIAT Ctr Diagnost, Sabadell, Catalunya, Spain Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Gabau, Elizabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Parc Tauli Fdn UAB Univ Inst, Paediat Unit, Sabadell, Catalunya, Spain Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Stolerman, Elliot
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr Inc, 106 Gregor Mendel Cir, Greenwood, SC USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Washington, Camerun
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr Inc, 106 Gregor Mendel Cir, Greenwood, SC USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Louie, Raymond J.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr Inc, 106 Gregor Mendel Cir, Greenwood, SC USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Lanpher, Brendan C.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Ctr Individualized Med, Rochester, MN USA
Mayo Clin, Dept Clin Genom, Rochester, MN USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Kemppainen, Jennifer L.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Ctr Individualized Med, Rochester, MN USA
Mayo Clin, Dept Clin Genom, Rochester, MN USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Innes, A. Micheil
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calgary, Dept Med Genet, Cumming Sch Med, Calgary, AB, Canada
Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Res Inst, Calgary, AB, Canada Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Kooy, R. Frank
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Antwerp, Ctr Med Genet, Antwerp, Belgium Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Meuwissen, Marije
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Antwerp, Ctr Med Genet, Antwerp, Belgium Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Goldenberg, Alice
论文数: 0 引用数: 0
h-index: 0
机构:
Normandie Univ, UNIROUEN, Inserm U1245, Rouen, Normandie, France
Rouen Univ Hosp, Dept Genet, Rouen, Normandie, France
CHU Rouen, Reference Ctr Dev Disorders, Rouen, Normandie, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

论文数: 引用数:
h-index:
机构:

Vera, Gabriella
论文数: 0 引用数: 0
h-index: 0
机构:
Normandie Univ, UNIROUEN, Inserm U1245, Rouen, Normandie, France
Rouen Univ Hosp, Dept Genet, Rouen, Normandie, France
CHU Rouen, Reference Ctr Dev Disorders, Rouen, Normandie, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Diderich, Karin E. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Sheidley, Beth Rosen
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Clin Neurophysiol, Boston, MA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

El Achkar, Christelle Moufawad
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Clin Neurophysiol, Boston, MA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Park, Meredith
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Clin Neurophysiol, Boston, MA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Hamdan, Fadi F.
论文数: 0 引用数: 0
h-index: 0
机构:
St Justine Hosp, Div Med Genet, Dept Pediat, Montreal, PQ, Canada Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Michaud, Jacques L.
论文数: 0 引用数: 0
h-index: 0
机构:
St Justine Hosp, Div Med Genet, Dept Pediat, Montreal, PQ, Canada Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Lewis, Ann J.
论文数: 0 引用数: 0
h-index: 0
机构:
Kaiser Permanente Santa Clara Med Ctr, Pediat Neurol, Santa Clara, CA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Zweier, Christiane
论文数: 0 引用数: 0
h-index: 0
机构:
Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany
Univ Hosp Bern, Dept Human Genet, Inselspital, Bern, BE, Switzerland Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Reis, Andre
论文数: 0 引用数: 0
h-index: 0
机构:
Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Wagner, Matias
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Munich, Bayern, Germany
Deutsch Forschungszentrum Umwelt & Gesundheit, Inst Neurogen, Helmholtz Zentrum Munchen, Neuherberg, Bayern, Germany Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Weigand, Heike
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ Munchen, Dr von Hauner Childrens Hosp,Dept Pediat, Div Pediat Neurol Dev Med & Social Pediat, Div Pediat Neurol,Munich Univ Hosp, Munich, Bayern, Germany Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Journel, Hubert
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Chubert, Serv Genet Med, Vannes, Bretagne, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Keren, Boris
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Pitie Salpetriere, Ctr Reference Deficience Intellectuelle Causes Ra, Dept Genet & Cytogenet, GRC UPMC Deficience Intellectuelle & Autisme, Paris, Ile De France, France
Sorbonne Univ, UPMC Univ Paris 06 UMR S 1127, Inst Cerveau & Moelle Epiniere, Inserm U1127,CNRS UMR 7225, Paris, Ile De France, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Passemard, Sandrine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Robert Debre, AP HP, Dept Genet, Paris, Ile De France, France
INSERM, UMR1141, NeuroDiderot, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Mignot, Cyril
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Pitie Salpetriere, Ctr Reference Deficience Intellectuelle Causes Ra, Dept Genet & Cytogenet, GRC UPMC Deficience Intellectuelle & Autisme, Paris, Ile De France, France
Sorbonne Univ, UPMC Univ Paris 06 UMR S 1127, Inst Cerveau & Moelle Epiniere, Inserm U1127,CNRS UMR 7225, Paris, Ile De France, France Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

van Gassen, Koen L., I
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Genet, Ctr Mol Med, Utrecht, Netherlands Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Brilstra, Eva H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Genet, Ctr Mol Med, Utrecht, Netherlands Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Itzikowitz, Gina
论文数: 0 引用数: 0
h-index: 0
机构:
Red Cross War Mem Childrens Hosp, Dept Paediat & Child Hlth, Rondebosch, Western Cape, South Africa Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

O'Heir, Emily
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst Genome Res, Ctr Mendelian Genom, Cambridge, MA USA
Broad Inst Genome Res, Program Med & Populat Genet, Cambridge, MA USA
Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Allen, Jake
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst, Stanley Ctr Psychiat Res, Cambridge, MA USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Donald, Kirsten A.
论文数: 0 引用数: 0
h-index: 0
机构:
Red Cross War Mem Childrens Hosp, Dept Paediat & Child Hlth, Rondebosch, Western Cape, South Africa
Univ Cape Town, Neurosci Inst, Rondebosch, Western Cape, South Africa Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Korf, Bruce R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Skelton, Tammi
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France

Thompson, Michelle L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA
HudsonAlpha Inst Biotechnol, HudsonAlpha Inst, Huntsville, AL USA Hop Univ Strasbourg, Inst Genet Med Alsace IGMA, Lab Diagnost Genet, Strasbourg, Alsace, France
[46]
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
[J].
Kuechler, Alma
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Willemsen, Marjolein H.
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Albrecht, Beate
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Bacino, Carlos A.
;
Bartholomew, Dennis W.
;
van Bokhoven, Hans
;
van den Boogaard, Marie Jose H.
;
Bramswig, Nuria
;
Buettner, Christian
;
Cremer, Kirsten
;
Czeschik, Johanna Christina
;
Engels, Hartmut
;
van Gassen, Koen
;
Graf, Elisabeth
;
van Haelst, Mieke
;
He, Weimin
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Hogue, Jacob S.
;
Kempers, Marlies
;
Koolen, David
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Monroe, Glen
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de Munnik, Sonja
;
Pastore, Matthew
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Reis, Andre
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Reuter, Miriam S.
;
Tegay, David H.
;
Veltman, Joris
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Visser, Gepke
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van Hasselt, Peter
;
Smeets, Eric E. J.
;
Vissers, Lisenka
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Wieland, Thomas
;
Wissink, Willemijn
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Yntema, Helger
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Zink, Alexander Michael
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Strom, Tim M.
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Luedecke, Hermann-Josef
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Kleefstra, Tjitske
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Wieczorek, Dagmar
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HUMAN GENETICS,
2015, 134 (01)
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Kuechler, Alma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Willemsen, Marjolein H.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Albrecht, Beate
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Bacino, Carlos A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Bartholomew, Dennis W.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Dept Pediat, Div Mol & Human Genet, Natl Childrens Hosp, Columbus, OH 43210 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

van Bokhoven, Hans
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

van den Boogaard, Marie Jose H.
论文数: 0 引用数: 0
h-index: 0
机构:
Utrecht Med Ctr, Dept Med Genet, Utrecht, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Bramswig, Nuria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Buettner, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Humangenet, Erlangen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Cremer, Kirsten
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, Bonn, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

论文数: 引用数:
h-index:
机构:

Engels, Hartmut
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, Bonn, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

van Gassen, Koen
论文数: 0 引用数: 0
h-index: 0
机构:
Utrecht Med Ctr, Dept Med Genet, Utrecht, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Graf, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Humangenet, Neuherberg, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

van Haelst, Mieke
论文数: 0 引用数: 0
h-index: 0
机构:
Utrecht Med Ctr, Dept Med Genet, Utrecht, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

He, Weimin
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Hogue, Jacob S.
论文数: 0 引用数: 0
h-index: 0
机构:
Madigan Army Med Ctr, Dept Pediat, Tacoma, WA 98431 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Kempers, Marlies
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Koolen, David
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Monroe, Glen
论文数: 0 引用数: 0
h-index: 0
机构:
Utrecht Med Ctr, Dept Med Genet, Utrecht, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

de Munnik, Sonja
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Pastore, Matthew
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Dept Pediat, Div Mol & Human Genet, Natl Childrens Hosp, Columbus, OH 43210 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Reis, Andre
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Humangenet, Erlangen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Reuter, Miriam S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Humangenet, Erlangen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Tegay, David H.
论文数: 0 引用数: 0
h-index: 0
机构:
New York Inst Technol, Coll Osteopath Med, Dept Med, Old Westbury, NY 11568 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Veltman, Joris
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Visser, Gepke
论文数: 0 引用数: 0
h-index: 0
机构:
Wilhelmina Childrens Hosp, Utrecht Med Ctr, Dept Metab Dis, Utrecht, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

van Hasselt, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Wilhelmina Childrens Hosp, Utrecht Med Ctr, Dept Metab Dis, Utrecht, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Smeets, Eric E. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Vissers, Lisenka
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Wieland, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Humangenet, Neuherberg, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Wissink, Willemijn
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Yntema, Helger
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h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Zink, Alexander Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, Bonn, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Strom, Tim M.
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Humangenet, Neuherberg, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Luedecke, Hermann-Josef
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Kleefstra, Tjitske
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h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

Wieczorek, Dagmar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany
[47]
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment
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Benvenuto, Mario
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Palumbo, Pietro
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Perrotta, Concetta Simona
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Mazza, Tommaso
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Mandara, Giuseppa Maria Luana
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Palumbo, Orazio
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Carella, Massimo
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GENES,
2023, 14 (10)

Benvenuto, Mario
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h-index: 0
机构:
Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy
Univ Foggia, Dipartimento Umanist, I-71122 Foggia, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy

Palumbo, Pietro
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h-index: 0
机构:
Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy

Di Muro, Ester
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h-index: 0
机构:
Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy

Perrotta, Concetta Simona
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h-index: 0
机构:
Maria Paterno Arezzo Hosp, Med Genet Unit, I-97100 Ragusa, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy

Mazza, Tommaso
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h-index: 0
机构:
Fdn IRCCS Casa Sollievo Sofferenza, Unit Bioinformat, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy

Mandara, Giuseppa Maria Luana
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h-index: 0
机构:
Maria Paterno Arezzo Hosp, Med Genet Unit, I-97100 Ragusa, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy

Palumbo, Orazio
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h-index: 0
机构:
Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy

Carella, Massimo
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h-index: 0
机构:
Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy
[48]
A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability
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Verhoeven, Willem M. A.
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INTERNATIONAL MEDICAL CASE REPORTS JOURNAL,
2020, 13
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Verhoeven, Willem M. A.
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h-index: 0
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Erasmus MC, Dept Psychiat, Rotterdam, Netherlands
Ctr Consultat & Expertise, Utrecht, Netherlands
Vincent van Gogh Ctr Excellence Neuropsychiat, Stn Weg 46, NL-5803 AC Venray, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlands

Egger, Jos I. M.
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h-index: 0
机构:
Vincent van Gogh Ctr Excellence Neuropsychiat, Stn Weg 46, NL-5803 AC Venray, Netherlands
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
Stevig Specialized & Forens Care People Intellect, Dichterbij, Oostrum, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlands

Jongbloed, Rob E.
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h-index: 0
机构:
Raphael Inst Scorlewald, Ctr People Intellectual Disabil, Schoorl, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlands

van Putten, Marloes Meijer
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h-index: 0
机构:
Raphael Inst Scorlewald, Ctr People Intellectual Disabil, Schoorl, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlands

de Bruijn-van Zandwijk, Marieke
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h-index: 0
机构:
ASVZ, Ctr People Intellectual Disabil, Sliedrecht, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlands

Zwemer, Anne-Suus
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h-index: 0
机构:
ASVZ, Ctr People Intellectual Disabil, Sliedrecht, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlands

Pfundt, Rolph
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h-index: 0
机构:
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlands

Willemsen, Marjolein H.
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h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlands
[49]
De Novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
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Claes, L
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HUMAN MUTATION,
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Claes, L
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机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

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机构:

Audenaert, D
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机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Smets, K
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h-index: 0
机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Löfgren, A
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机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Del-Favero, J
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机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Ala-Mello, S
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h-index: 0
机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Basel-Vanagaite, L
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h-index: 0
机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Plecko, B
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h-index: 0
机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Raskin, S
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h-index: 0
机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Thiry, P
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h-index: 0
机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Wolf, NI
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h-index: 0
机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

Van Broeckhoven, C
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h-index: 0
机构: Univ Antwerp VIB, Born Bunge Fdn, Dept Mol Genet, B-2020 Antwerp, Belgium

De Jonghe, P
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De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
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Kury, S.
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EUROPEAN JOURNAL OF HUMAN GENETICS,
2019, 27
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Kury, S.
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h-index: 0
机构:
CHU Nantes, Nantes, France
Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France CHU Nantes, Nantes, France

van Woerden, G. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Rotterdam, Netherlands
ENCORE Expertise Ctr Neurodev Disorders, Rotterdam, Netherlands CHU Nantes, Nantes, France

论文数: 引用数:
h-index:
机构:

Latypova, X.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Nantes, France
Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France CHU Nantes, Nantes, France

Cho, M. T.
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USA CHU Nantes, Nantes, France

Sanders, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA CHU Nantes, Nantes, France

Stessman, H. A. F.
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h-index: 0
机构:
Creighton Univ, Med Sch, Omaha, NE 68178 USA CHU Nantes, Nantes, France

Sellars, E. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Arkansas Childrens Hosp, 800 Marshall St, Little Rock, AR 72202 USA CHU Nantes, Nantes, France

Berg, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dundee, Dundee, Scotland CHU Nantes, Nantes, France

Waugh, J. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Boston, MA USA
Harvard Med Sch, Boston, MA 02115 USA CHU Nantes, Nantes, France

Robak, L. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA CHU Nantes, Nantes, France

Bernstein, J. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Stanford, CA 94305 USA CHU Nantes, Nantes, France

Deardorff, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA CHU Nantes, Nantes, France

Hoganson, G. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Illinois, Chicago, IL USA CHU Nantes, Nantes, France

Johnson, D. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp, Sheffield, S Yorkshire, England CHU Nantes, Nantes, France

Dabir, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Belfast City Hosp, Belfast, Antrim, North Ireland CHU Nantes, Nantes, France

Sarkar, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Nottingham Univ Hosp NHS Trust, Nottingham, England CHU Nantes, Nantes, France

Lesca, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Civils Lyon, Lyon, France
CNRS, Ctr Rech Neurosci Lyon, INSERM, Lyon, France CHU Nantes, Nantes, France

Terhal, P. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Utrecht, Netherlands CHU Nantes, Nantes, France

Prescott, T. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Telemark Hosp, Skien, Norway CHU Nantes, Nantes, France

Grange, D. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, St Louis, MO USA CHU Nantes, Nantes, France

van Haeringen, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Leiden, Netherlands CHU Nantes, Nantes, France

Lam, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Seattle, WA USA
Seattle Childrens Hosp, Seattle, WA USA CHU Nantes, Nantes, France

Mirzaa, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Seattle, WA USA
Seattle Childrens Hosp, Seattle, WA USA
Seattle Childrens Res Inst, Seattle, WA USA CHU Nantes, Nantes, France

Helbig, K. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA CHU Nantes, Nantes, France

Afenjar, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Hop Trousseau, GRC ConCer LD, Paris, France CHU Nantes, Nantes, France

论文数: 引用数:
h-index:
机构:

Vitobello, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne Franche Comte, Dijon, France CHU Nantes, Nantes, France

Faivre, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne Franche Comte, Dijon, France CHU Nantes, Nantes, France

Cogne, B.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Nantes, France
Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France CHU Nantes, Nantes, France

Rosenfeld, J. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA CHU Nantes, Nantes, France

Agrawal, P. B.
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机构:
Boston Childrens Hosp, Boston, MA USA
Harvard Med Sch, Boston, MA 02115 USA CHU Nantes, Nantes, France

Odent, S.
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机构:
CHU Rennes, Rennes, France CHU Nantes, Nantes, France

Bezieau, S.
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CHU Nantes, Nantes, France
Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France CHU Nantes, Nantes, France

Elgersma, Y.
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Erasmus MC, Rotterdam, Netherlands
ENCORE Expertise Ctr Neurodev Disorders, Rotterdam, Netherlands CHU Nantes, Nantes, France

Mercier, S.
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CHU Nantes, Nantes, France
Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France CHU Nantes, Nantes, France