共 11 条
[1]
Biallelic Variants in UBAS Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
[J].
Colin, Estelle
;
Daniel, Jens
;
Ziegler, Alban
;
Wakim, Jamal
;
Scrivo, Aurora
;
Haack, Tobias B.
;
Khiati, Salim
;
Denomme, Anne-Sophie
;
Amati-Bonneau, Patrizia
;
Charif, Majida
;
Procaccio, Vincent
;
Reynier, Pascal
;
Aleck, Kyrieckos A.
;
Botto, Lorenzo D.
;
Herper, Claudia Lena
;
Kaiser, Charlotte Sophia
;
Nabbout, Rima
;
N'Guyen, Sylvie
;
Antonio Mora-Lorca, Jose
;
Assmann, Birgit
;
Christ, Stine
;
Meitinger, Thomas
;
Strom, Tim M.
;
Prokisch, Holger
;
Miranda-Vizuete, Antonio
;
Hoffmann, Georg F.
;
Lenaers, Guy
;
Bomont, Pascale
;
Liebau, Eva
;
Bonneau, Dominique
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2016, 99 (03)
:695-703

Colin, Estelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France
Univ Angers, INSERM 1083, UMR CNRS 6214, F-49933 Angers 9, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Daniel, Jens
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Dept Mol Physiol, D-48143 Munster, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

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Wakim, Jamal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Angers, INSERM 1083, UMR CNRS 6214, F-49933 Angers 9, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Scrivo, Aurora
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montpellier, Avenir Atip Team, INSERM, Inst Neurosci Montpellier,U1051, F-34091 Montpellier 5, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Haack, Tobias B.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

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Denomme, Anne-Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France
Univ Angers, INSERM 1083, UMR CNRS 6214, F-49933 Angers 9, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Amati-Bonneau, Patrizia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France
Univ Angers, INSERM 1083, UMR CNRS 6214, F-49933 Angers 9, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Charif, Majida
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Angers, INSERM 1083, UMR CNRS 6214, F-49933 Angers 9, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

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Reynier, Pascal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France
Univ Angers, INSERM 1083, UMR CNRS 6214, F-49933 Angers 9, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Aleck, Kyrieckos A.
论文数: 0 引用数: 0
h-index: 0
机构:
Phoenix Childrens Med Grp, Dept Genet & Metab, Phoenix, AZ 85016 USA Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Botto, Lorenzo D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Div Med Genet, Dept Pediat, Salt Lake City, UT 84132 USA Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Herper, Claudia Lena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Dept Mol Physiol, D-48143 Munster, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Kaiser, Charlotte Sophia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Dept Mol Physiol, D-48143 Munster, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Nabbout, Rima
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Necker Enfants Malad, Dept Pediat Neurol, Natl Reference Ctr Rare Epilepsies, F-75015 Paris, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

N'Guyen, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Dept Pediat Neurol, F-49933 Angers 9, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Antonio Mora-Lorca, Jose
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Seville, Inst Biomed Seville, CSIC, Univ Hosp Virgen del Rocio, Seville 41013, Spain Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Assmann, Birgit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Dept Gen Pediat, Div Pediat Metab Med & Neuropediat, D-69120 Heidelberg, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Christ, Stine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Dept Gen Pediat, Div Pediat Metab Med & Neuropediat, D-69120 Heidelberg, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Meitinger, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Strom, Tim M.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Prokisch, Holger
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Miranda-Vizuete, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Seville, Inst Biomed Seville, CSIC, Univ Hosp Virgen del Rocio, Seville 41013, Spain Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Hoffmann, Georg F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Dept Gen Pediat, Div Pediat Metab Med & Neuropediat, D-69120 Heidelberg, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Lenaers, Guy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Angers, INSERM 1083, UMR CNRS 6214, F-49933 Angers 9, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Bomont, Pascale
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montpellier, Avenir Atip Team, INSERM, Inst Neurosci Montpellier,U1051, F-34091 Montpellier 5, France Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

Liebau, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Dept Mol Physiol, D-48143 Munster, Germany Univ Hosp, Dept Biochem & Genet, F-49933 Angers 9, France

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[2]
Gripp KW, 2000, HUM MUTAT, V15, P150, DOI 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO
[3]
2-D
[4]
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex
[J].
Ishizuka, Koko
;
Kamiya, Atsushi
;
Oh, Edwin C.
;
Kanki, Hiroaki
;
Seshadri, Saurav
;
Robinson, Jon F.
;
Murdoch, Hannah
;
Dunlop, Allan J.
;
Kubo, Ken-ichiro
;
Furukori, Keiko
;
Huang, Beverly
;
Zeledon, Mariela
;
Hayashi-Takagi, Akiko
;
Okano, Hideyuki
;
Nakajima, Kazunori
;
Houslay, Miles D.
;
Katsanis, Nicholas
;
Sawa, Akira
.
NATURE,
2011, 473 (7345)
:92-U107

Ishizuka, Koko
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Kamiya, Atsushi
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Oh, Edwin C.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Ctr Human Dis Modeling, Durham, NC 27710 USA
Duke Univ, Dept Cell Biol, Durham, NC 27710 USA
Duke Univ, Dept Pediat, Durham, NC 27710 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Kanki, Hiroaki
论文数: 0 引用数: 0
h-index: 0
机构:
Keio Univ, Sch Med, Dept Physiol, Tokyo 1608582, Japan Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Seshadri, Saurav
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Robinson, Jon F.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Ctr Human Dis Modeling, Durham, NC 27710 USA
Duke Univ, Dept Cell Biol, Durham, NC 27710 USA
Duke Univ, Dept Pediat, Durham, NC 27710 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Murdoch, Hannah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Glasgow, CMVLS, Inst Neurosci & Psychol, Mol Pharmacol Grp, Glasgow G12 8QQ, Lanark, Scotland Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Dunlop, Allan J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Glasgow, CMVLS, Inst Neurosci & Psychol, Mol Pharmacol Grp, Glasgow G12 8QQ, Lanark, Scotland Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Kubo, Ken-ichiro
论文数: 0 引用数: 0
h-index: 0
机构:
Keio Univ, Sch Med, Dept Anat, Tokyo 1608582, Japan Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Furukori, Keiko
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Huang, Beverly
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Zeledon, Mariela
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

Hayashi-Takagi, Akiko
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

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Houslay, Miles D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Glasgow, CMVLS, Inst Neurosci & Psychol, Mol Pharmacol Grp, Glasgow G12 8QQ, Lanark, Scotland Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA

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Sawa, Akira
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA
Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA
[5]
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
[J].
Jansen, Sandra
;
Geuer, Sinje
;
Pfundt, Rolph
;
Brough, Rachel
;
Ghongane, Priyanka
;
Herkert, Johanna C.
;
Marco, Elysa J.
;
Willemsen, Marjolein H.
;
Kleefstra, Tjitske
;
Hannibal, Mark
;
Shieh, Joseph T.
;
Lynch, Sally Ann
;
Flinter, Frances
;
FitzPatrick, David R.
;
Gardham, Alice
;
Bernhard, Birgitta
;
Ragge, Nicola
;
Newbury-Ecob, Ruth
;
Bernier, Raphael
;
Kvarnung, Malin
;
Magnusson, E. A. Helena
;
Wessels, Marja W.
;
van Slegtenhorst, Marjon A.
;
Monaghan, Kristin G.
;
de Vries, Petra
;
Veltman, Joris A.
;
Lord, Christopher J.
;
Vissers, Lisenka E. L. M.
;
de Vries, Bert B. A.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2017, 100 (04)
:650-658

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

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

Brough, Rachel
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Canc Res, Canc Res UK Gene Funct Lab, London SW3 6JB, England
Inst Canc Res, Breast Canc Now Res Ctr, London SW3 6JB, England Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Ghongane, Priyanka
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Canc Res, Canc Res UK Gene Funct Lab, London SW3 6JB, England
Inst Canc Res, Breast Canc Now Res Ctr, London SW3 6JB, England Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Herkert, Johanna C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, POB 30001, NL-9700 RB Groningen, Netherlands Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Marco, Elysa J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Neurol, 675 Nelson Rising Lane, Suite 405, San Francisco, CA 94143 USA
Univ Calif San Francisco, Dept Pediat, 675 Nelson Rising Lane, Suite 405, San Francisco, CA 94143 USA
Univ Calif San Francisco, Dept Psychiat, 675 Nelson Rising Lane, Suite 405, San Francisco, CA 94143 USA Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Willemsen, Marjolein H.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, 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, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

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Shieh, Joseph T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, UCSF Benioff Childrens Hosp, Inst Human Genet, Dept Pediat,Div Med Genet, San Francisco, CA 94143 USA Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Lynch, Sally Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Univ Hosp, Clin Genet, Temple St, Dublin 1, Ireland
Univ Coll Dublin, Sch Med & Med Sci, Acad Ctr Rare Dis, Dublin 1, Ireland Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Flinter, Frances
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas NHS Fdn Trust, Dept Clin Genet, Great Maze Pond, London SE1 9RT, England Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

FitzPatrick, David R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, Med Res Council Human Genet Unit, Crewe Rd South, Edinburgh EH4 2XU, Midlothian, Scotland Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Gardham, Alice
论文数: 0 引用数: 0
h-index: 0
机构:
North West London Hosp, North West Thames Reg Genet Serv Kennedy Galton C, London HA1 3UJ, England Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Bernhard, Birgitta
论文数: 0 引用数: 0
h-index: 0
机构:
North West London Hosp, North West Thames Reg Genet Serv Kennedy Galton C, London HA1 3UJ, England Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Ragge, Nicola
论文数: 0 引用数: 0
h-index: 0
机构:
Oxford Brookes Univ, Fac Hlth & Life Sci, Gipsy Lane, Oxford OX3 0BP, England
Birmingham Womens Hosp NHS Fdn Trust, West Midlands Reg Clin Genet Serv & Birmingham Hl, Birmingham B15 2TG, W Midlands, England Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Newbury-Ecob, Ruth
论文数: 0 引用数: 0
h-index: 0
机构:
St Michaels Hosp, Univ Hosp Bristol NHS Fdn Trust, Dept Clin Genet, Southwell St, Bristol BS2 8EG, Avon, England Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Bernier, Raphael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Ctr Human Dev & Disabil, POB 357920, Seattle, WA 98195 USA Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Kvarnung, Malin
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Solna, Karolinska Inst, Dept Clin Genet, S-17177 Stockholm, Sweden Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Magnusson, E. A. Helena
论文数: 0 引用数: 0
h-index: 0
机构:
Habilitat Org, Dept Med & Neurol, Reg Skane 291, S-29189 Kristianstad, Sweden Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Wessels, Marja W.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

van Slegtenhorst, Marjon A.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Monaghan, Kristin G.
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD 20877 USA Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

de Vries, Petra
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, 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, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
Maastricht Univ, Med Ctr, Dept Clin Genet, Univ Singel 50, NL-9229 ER Maastricht, Netherlands Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Lord, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Canc Res, Canc Res UK Gene Funct Lab, London SW3 6JB, England
Inst Canc Res, Breast Canc Now Res Ctr, London SW3 6JB, England Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, 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, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Donders Ctr Neurosci, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

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Kimura, T
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CHU Angers, Serv Genet Med, Angers, France EFS Normandie, Lab Cytogenet, Bois Guillaume, France

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CHU Angers, Serv Genet Med, Angers, France EFS Normandie, Lab Cytogenet, Bois Guillaume, France

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CHU Rouen, Serv Med Neonatale, Rouen, France EFS Normandie, Lab Cytogenet, Bois Guillaume, France

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CHU Rouen, Serv Genet, Rouen, France EFS Normandie, Lab Cytogenet, Bois Guillaume, France

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Univ Lille 2, F-59800 Lille, France EFS Normandie, Lab Cytogenet, Bois Guillaume, France

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Univ Rennes 1, CNRS, UMR 6061, IFR 140, Rennes, France
CHU Pontchaillou, Genet Mol Lab, Rennes, France EFS Normandie, Lab Cytogenet, Bois Guillaume, France

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Univ Rennes 1, CNRS, UMR 6061, IFR 140, Rennes, France
CHU Pontchaillou, Genet Mol Lab, Rennes, France EFS Normandie, Lab Cytogenet, Bois Guillaume, France

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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Univ Sydney, Sch Paediat & Child Hlth, Sydney, NSW 2145, Australia
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Minikel, Eric V.
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Harvard Med Sch, Program Biol & Biomed Sci, Boston, MA 02115 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Samocha, Kaitlin E.
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Harvard Med Sch, Program Biol & Biomed Sci, Boston, MA 02115 USA
Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Banks, Eric
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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Fennell, Timothy
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Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

O'Donnell-Luria, Anne H.
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h-index: 0
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Ware, James S.
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h-index: 0
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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Harvard Med Sch, Dept Genet, Boston, MA 02115 USA
Imperial Coll London, Natl Heart & Lung Inst, London SW7 2AZ, England
Royal Brompton Hosp, NIHR Royal Brompton Cardiovasc Biomed Res Unit, London SW3 6NP, England
Imperial Coll London, MRC Clin Sci Ctr, London SW7 2AZ, England Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Hill, Andrew J.
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h-index: 0
机构:
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Univ Washington, Genome Sci, Seattle, WA 98195 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Cummings, Beryl B.
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机构:
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Harvard Med Sch, Program Biol & Biomed Sci, Boston, MA 02115 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Tukiainen, Taru
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Birnbaum, Daniel P.
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机构:
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Kosmicki, Jack A.
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h-index: 0
机构:
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA
Harvard Med Sch, Program Bioinformat & Integrat Genom, Boston, MA 02115 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Duncan, Laramie E.
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机构:
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Estrada, Karol
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Zhao, Fengmei
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Genome Sci, Seattle, WA 98195 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Zou, James
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h-index: 0
机构:
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Pierce-Hollman, Emma
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Berghout, Joanne
论文数: 0 引用数: 0
h-index: 0
机构:
Jackson Lab, Mouse Genome Informat, 600 Main St, Bar Harbor, ME 04609 USA
Univ Arizona, Ctr Biomed Informat & Biostat, Tucson, AZ 85721 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Cooper, David N.
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机构:
Cardiff Univ, Inst Med Genet, Cardiff CF10 3XQ, S Glam, Wales Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Deflaux, Nicole
论文数: 0 引用数: 0
h-index: 0
机构:
Google, Mountain View, CA 94043 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

DePristo, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Do, Ron
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Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Ctr Stat Genet, New York, NY 10029 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Flannick, Jason
论文数: 0 引用数: 0
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机构:
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Fromer, Menachem
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h-index: 0
机构:
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA
Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Gauthier, Laura
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Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Goldstein, Jackie
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Gupta, Namrata
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h-index: 0
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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Howrigan, Daniel
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Kiezun, Adam
论文数: 0 引用数: 0
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Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Kurki, Mitja I.
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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
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Moonshine, Ami Levy
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Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Natarajan, Pradeep
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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Harvard Med Sch, Boston, MA 02115 USA
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Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Orozeo, Lorena
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Inst Nacl Med Genom, Immunogen & Metab Dis Lab, Mexico City 14610, DF, Mexico Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Peloso, Gina M.
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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA
Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Poplin, Ryan
论文数: 0 引用数: 0
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Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Rivas, Manuel A.
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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Ruano-Rubio, Valentin
论文数: 0 引用数: 0
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Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Rose, Samuel A.
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Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Ruderfer, Douglas M.
论文数: 0 引用数: 0
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Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Shakir, Khalid
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Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Stenson, Peter D.
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Cardiff Univ, Inst Med Genet, Cardiff CF10 3XQ, S Glam, Wales Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Stevens, Christine
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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Thomas, Brett P.
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Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Tiao, Grace
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Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Tusie-Luna, Maria T.
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机构:
Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Mol Biol & Genom Med Unit, Mexico City 14080, DF, Mexico Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Weisburd, Ben
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Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Won, Hong-Hee
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机构:
Sungkyunkwan Univ, Samsung Med Ctr, Samsung Adv Inst Hlth Sci & Technol SAIHST, Seoul, South Korea Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Yu, Dongmei
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Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA
Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA
Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Altshuler, David M.
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机构:
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
Vertex Pharmaceut, Boston, MA 02210 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
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Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy
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Isrie, Mala
;
Liu, Yue
;
Scheldeman, Chloe
;
Vanthillo, Niels
;
Lagae, Lieven
;
de Witte, Peter A. M.
;
Van Esch, Hilde
;
Goldfarb, Mitchell
;
Buyse, Gunnar M.
.
NEUROLOGY,
2016, 86 (23)
:2162-2170

Siekierska, Aleksandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium
Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium

Isrie, Mala
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leuven, Lab Genet Cognit, Leuven, Belgium Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium

Liu, Yue
论文数: 0 引用数: 0
h-index: 0
机构:
CUNY Hunter Coll, Dept Biol Sci, 695 Pk Ave, New York, NY 10021 USA
CUNY, Grad Program Biol Neurosci, New York, NY 10021 USA Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium

Scheldeman, Chloe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium

Vanthillo, Niels
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium

Lagae, Lieven
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Leuven, Child Neurol, Leuven, Belgium Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium

de Witte, Peter A. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium

Van Esch, Hilde
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium

Goldfarb, Mitchell
论文数: 0 引用数: 0
h-index: 0
机构:
CUNY Hunter Coll, Dept Biol Sci, 695 Pk Ave, New York, NY 10021 USA Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium

Buyse, Gunnar M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Leuven, Child Neurol, Leuven, Belgium Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Biodiscovery, Leuven, Belgium
[10]
Sobreira Nara, 2015, Hum Mutat, V36, P928, DOI 10.1002/humu.22844