共 10 条
[1]
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
[J].
Basmanav, F. Buket U.
;
Cau, Laura
;
Tafazzoli, Aylar
;
Mechin, Marie-Claire
;
Wolf, Sabrina
;
Romano, Maria Teresa
;
Valentin, Frederic
;
Wiegmann, Henning
;
Huchenq, Anne
;
Kandil, Rima
;
Bartels, Natalie Garcia
;
Kilic, Arzu
;
George, Susannah
;
Ralser, Damian J.
;
Bergner, Stefan
;
Ferguson, David J. P.
;
Oprisoreanu, Ana-Maria
;
Wehner, Maria
;
Thiele, Holger
;
Altmueller, Janine
;
Nuerenberg, Peter
;
Swan, Daniel
;
Houniet, Darren
;
Buechner, Aline
;
Weibel, Lisa
;
Wagner, Nicola
;
Grimalt, Ramon
;
Bygum, Anette
;
Serre, Guy
;
Blume-Peytavi, Ulrike
;
Sprecher, Eli
;
Schoch, Susanne
;
Oji, Vinzenz
;
Hamm, Henning
;
Farrant, Paul
;
Simon, Michel
;
Betz, Regina C.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2016, 99 (06)
:1292-1304

Basmanav, F. Buket U.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany
Univ Med Ctr Gottingen, Dept Neuro & Sensory Physiol, D-37073 Gottingen, Germany
Univ Gottingen, Campus Lab Adv Imaging Microscopy & Spect, D-37073 Gottingen, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

论文数: 引用数:
h-index:
机构:

Tafazzoli, Aylar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

论文数: 引用数:
h-index:
机构:

Wolf, Sabrina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Romano, Maria Teresa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Valentin, Frederic
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Dept Dermatol, D-48149 Munster, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Wiegmann, Henning
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Dept Dermatol, D-48149 Munster, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Huchenq, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
CNRS, UMR5165, F-31059 Toulouse, France
INSERM, U1056, F-31059 Toulouse, France
Univ Toulouse, F-31059 Toulouse, France Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Kandil, Rima
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Bartels, Natalie Garcia
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Dept Dermatol & Allergy, Clin Res Ctr Hair & Skin Sci, D-10117 Berlin, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Kilic, Arzu
论文数: 0 引用数: 0
h-index: 0
机构:
Balikesir Univ, Sch Med, Dept Dermatol, TR-10100 Balikesir, Turkey Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

论文数: 引用数:
h-index:
机构:

Ralser, Damian J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Bergner, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Ferguson, David J. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, John Radcliffe Hosp, Nuffield Dept Clin Lab Sci, Oxford OX3 9DU, England Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Oprisoreanu, Ana-Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Dept Neuropathol, D-53127 Bonn, Germany
Univ Bonn, Dept Epileptol, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Wehner, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

论文数: 引用数:
h-index:
机构:

Altmueller, Janine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany
Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Nuerenberg, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany
Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany
Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, D-50931 Cologne, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Swan, Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
Oxford Gene Technol, Computat Biol Grp, Oxford OX5 1PF, England Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Houniet, Darren
论文数: 0 引用数: 0
h-index: 0
机构:
Oxford Gene Technol, Computat Biol Grp, Oxford OX5 1PF, England Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Buechner, Aline
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich Hosp, Univ Childrens Hosp Zurich, Pediat Dermatol Dept, CH-8032 Zurich, Switzerland Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Weibel, Lisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich Hosp, Univ Childrens Hosp Zurich, Pediat Dermatol Dept, CH-8032 Zurich, Switzerland
Univ Zurich Hosp, Dept Dermatol, CH-8032 Zurich, Switzerland Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Wagner, Nicola
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Ctr Darmstadt, D-64297 Darmstadt, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Grimalt, Ramon
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Int Catalunya, Barcelona 08195, Spain Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Bygum, Anette
论文数: 0 引用数: 0
h-index: 0
机构:
Odense Univ Hosp, Dept Dermatol, DK-5000 Odense, Denmark
Odense Univ Hosp, Allergy Ctr, DK-5000 Odense, Denmark Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Serre, Guy
论文数: 0 引用数: 0
h-index: 0
机构:
CNRS, UMR5165, F-31059 Toulouse, France
INSERM, U1056, F-31059 Toulouse, France
Univ Toulouse, F-31059 Toulouse, France Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Blume-Peytavi, Ulrike
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Dept Dermatol & Allergy, Clin Res Ctr Hair & Skin Sci, D-10117 Berlin, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Sprecher, Eli
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Sourasky Med Ctr, Dept Dermatol, IL-64239 Tel Aviv, Israel Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Schoch, Susanne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Dept Neuropathol, D-53127 Bonn, Germany
Univ Bonn, Dept Epileptol, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Oji, Vinzenz
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Dept Dermatol, D-48149 Munster, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

Hamm, Henning
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Wurzburg, Dept Dermatol Venereol & Allergol, D-97080 Wurzburg, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Betz, Regina C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany
[2]
WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
[J].
Bohring, Axel
;
Stamm, Thomas
;
Spaich, Christiane
;
Haase, Claudia
;
Spree, Kerstin
;
Hehr, Ute
;
Hoffmann, Mandy
;
Ledig, Susanne
;
Sel, Saadettin
;
Wieacker, Peter
;
Roepke, Albrecht
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2009, 85 (01)
:97-105

Bohring, Axel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Inst Humangenet, D-48149 Munster, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Stamm, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Poliklin Kieferorthopadie, D-48149 Munster, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Spaich, Christiane
论文数: 0 引用数: 0
h-index: 0
机构:
Olga Hosp, Inst Klin Genet, D-70176 Stuttgart, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Haase, Claudia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kinderklin Jena, Stoffwechselzentrum Thuringen, Klin Genet, D-07740 Jena, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Spree, Kerstin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Inst Humangenet, D-48149 Munster, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Hehr, Ute
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Regensburg, Zentrum & Inst Humangenet, D-93053 Regensburg, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Hoffmann, Mandy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Inst Humangenet, D-48149 Munster, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Ledig, Susanne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Inst Humangenet, D-48149 Munster, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Sel, Saadettin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Halle Wittenberg, Klin & Poliklin Augenheilkunde, D-06120 Halle, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Wieacker, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Inst Humangenet, D-48149 Munster, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany

Roepke, Albrecht
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Inst Humangenet, D-48149 Munster, Germany Univ Munster, Inst Humangenet, D-48149 Munster, Germany
[3]
The UK Biobank resource with deep phenotyping and genomic data
[J].
Bycroft, Clare
;
Freeman, Colin
;
Petkova, Desislava
;
Band, Gavin
;
Elliott, Lloyd T.
;
Sharp, Kevin
;
Motyer, Allan
;
Vukcevic, Damjan
;
Delaneau, Olivier
;
O'Connell, Jared
;
Cortes, Adrian
;
Welsh, Samantha
;
Young, Alan
;
Effingham, Mark
;
McVean, Gil
;
Leslie, Stephen
;
Allen, Naomi
;
Donnelly, Peter
;
Marchini, Jonathan
.
NATURE,
2018, 562 (7726)
:203-+

Bycroft, Clare
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Freeman, Colin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Petkova, Desislava
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Procter & Gamble, Brussels, Belgium Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Band, Gavin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Elliott, Lloyd T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Stat, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Sharp, Kevin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Stat, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Motyer, Allan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Melbourne Integrat Genom, Parkville, Vic, Australia
Univ Melbourne, Sch Math & Stat, Parkville, Vic, Australia
Univ Melbourne, Sch BioSci, Parkville, Vic, Australia Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

论文数: 引用数:
h-index:
机构:

Delaneau, Olivier
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Geneva, Swiss Inst Bioinformat, Geneva, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, Geneva, Switzerland Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

O'Connell, Jared
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Ltd, Chesterford Res Pk, Saffron Walden, Essex, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Cortes, Adrian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, John Radcliffe Hosp, Div Clin Neurol, Nuffield Dept Clin Neu rosci, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Welsh, Samantha
论文数: 0 引用数: 0
h-index: 0
机构:
UK Biobank, Stockport, Cheshire, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Young, Alan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Effingham, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
UK Biobank, Stockport, Cheshire, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

McVean, Gil
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Leslie, Stephen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Melbourne Integrat Genom, Parkville, Vic, Australia
Univ Melbourne, Sch Math & Stat, Parkville, Vic, Australia
Univ Melbourne, Sch BioSci, Parkville, Vic, Australia
Murdoch Childrens Res Inst, Parkville, Vic, Australia Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Allen, Naomi
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Donnelly, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, Dept Stat, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

Marchini, Jonathan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, Dept Stat, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
[4]
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
[J].
Cesarato, Nicole
;
Schwieger-Briel, Agnes
;
Gossmann, Yasmina
;
Henne, Sabrina K.
;
Hillmann, Kathrin
;
Frommherz, Leonie H.
;
Wehner, Maria
;
Xiong, Xing
;
Thiele, Holger
;
Oji, Vinzenz
;
Milani, Donatella
;
Tantcheva-Poor, Iliana
;
Giehl, Kathrin
;
Foelster-Holst, Regina
;
Teichler, Anne
;
Braeckmans, Delphine
;
Hoeger, Peter H.
;
Jones, Gabriela
;
Frank, Jorge
;
Weibel, Lisa
;
Blume-Peytavi, Ulrike
;
Hamm, Henning
;
Noethen, Markus M.
;
Geyer, Matthias
;
Heilmann-Heimbach, Stefanie
;
Basmanav, F. Buket
;
Betz, Regina C.
.
BRITISH JOURNAL OF DERMATOLOGY,
2023, 189 (06)
:741-749

Cesarato, Nicole
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

论文数: 引用数:
h-index:
机构:

Gossmann, Yasmina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Henne, Sabrina K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Hillmann, Kathrin
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Dept Dermatol Venereol & Allergol, Berlin, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Frommherz, Leonie H.
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilian Univ Munich, Dept Dermatol & Allergy, Munich, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Wehner, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Xiong, Xing
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

论文数: 引用数:
h-index:
机构:

Oji, Vinzenz
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Muenster, Dept Dermatol, Munster, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Milani, Donatella
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ca Granda Osped Maggiore Policlin, Milan, Italy Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Tantcheva-Poor, Iliana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Fac Med, Dept Dermatol, Cologne, Germany
Univ Cologne, Univ Hosp Cologne, Cologne, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Giehl, Kathrin
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilian Univ Munich, Dept Dermatol & Allergy, Munich, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Foelster-Holst, Regina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Schleswig Holstein, Dept Dermatol Venereol & Allergol, Kiel, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Teichler, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Childrens Hosp Wilhelmstift, Dept Paediat Dermatol, Hamburg, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Braeckmans, Delphine
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Childrens Hosp Wilhelmstift, Dept Paediat Dermatol, Hamburg, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Hoeger, Peter H.
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Childrens Hosp Wilhelmstift, Dept Paediat Dermatol, Hamburg, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Jones, Gabriela
论文数: 0 引用数: 0
h-index: 0
机构:
Nottingham Univ Hosp NHS Trust, Clin Genet Dept, Nottingham, England Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Frank, Jorge
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Gottingen, Dept Dermatol Venereol & Allergol, Gottingen, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Weibel, Lisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Zurich, Dept Pediat Dermatol, Zurich, Switzerland Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Blume-Peytavi, Ulrike
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Dept Dermatol Venereol & Allergol, Berlin, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Hamm, Henning
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Wurzburg, Dept Dermatol Venereol & Allergol, Wurzburg, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Noethen, Markus M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Geyer, Matthias
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Biol Struct, Bonn, Germany
Univ Hosp Bonn, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Heilmann-Heimbach, Stefanie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Basmanav, F. Buket
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany

Betz, Regina C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany Univ Bonn, Med Fac, Inst Human Genet, Bonn, Germany
[5]
WNT10A, dermatology and dentistry
[J].
Doolan, B. J.
;
Onoufriadis, A.
;
Kantaputra, P.
;
McGrath, J. A.
.
BRITISH JOURNAL OF DERMATOLOGY,
2021, 185 (06)
:1105-1111

Doolan, B. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

Onoufriadis, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

Kantaputra, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Chiang Mai Univ, Div Pediat Dent, Dept Orthodont & Pediat Dent, Fac Dent, Chiang Mai, Thailand
Chiang Mai Univ, Ctr Excellence Med Genet Res, Fac Dent, Chiang Mai, Thailand Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

McGrath, J. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England
[6]
A review of genotrichoses and hair pathology associated with inherited skin diseases
[J].
Doolan, Brent J.
;
Rayinda, Tuntas
;
Chiu, Frank P.
;
McGrath, John A.
;
Onoufriadis, Alexandros
.
BRITISH JOURNAL OF DERMATOLOGY,
2023, 189 (02)
:154-160

Doolan, Brent J.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

Rayinda, Tuntas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gadjah Mada, Dept Dermatol & Venereol, Fac Med Publ Hlth & Nursing, Yogyakarta, Indonesia Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

论文数: 引用数:
h-index:
机构:

McGrath, John A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

Onoufriadis, Alexandros
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England
Aristotle Univ Thessaloniki, Sch Med, Lab Med Biol & Genet, Thessaloniki, Greece Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England
[7]
Variant PADI3 in Central Centrifugal Cicatricial Alopecia
[J].
Malki, Liron
;
Sarig, Ofer
;
Romano, Maria-Teresa
;
Mechin, Marie-Claire
;
Peled, Alon
;
Pavlovsky, Mor
;
Warshauer, Emily
;
Samuelov, Liat
;
Uwakwe, Laura
;
Briskin, Valeria
;
Mohamad, Janan
;
Gat, Andrea
;
Isakov, Ofer
;
Rabinowitz, Tom
;
Shomron, Noam
;
Adir, Noam
;
Simon, Michel
;
McMichael, Amy
;
Dlova, Ncoza C.
;
Betz, Regina C.
;
Sprecher, Eli
.
NEW ENGLAND JOURNAL OF MEDICINE,
2019, 380 (09)
:833-841

Malki, Liron
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel
Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Sarig, Ofer
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Romano, Maria-Teresa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, Sch Med, Bonn, Germany
Univ Hosp Bonn, Bonn, Germany Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

论文数: 引用数:
h-index:
机构:

Peled, Alon
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel
Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Pavlovsky, Mor
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Warshauer, Emily
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Samuelov, Liat
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Uwakwe, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Wake Forest Baptist Med Ctr, Dept Dermatol, Winston Salem, NC USA Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Briskin, Valeria
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Mohamad, Janan
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel
Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Gat, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Inst Pathol, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Isakov, Ofer
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Dept Cell & Dev Biol, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Rabinowitz, Tom
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Dept Cell & Dev Biol, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Shomron, Noam
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Dept Cell & Dev Biol, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Adir, Noam
论文数: 0 引用数: 0
h-index: 0
机构:
Technion, Schulich Fac Chem, Haifa, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

论文数: 引用数:
h-index:
机构:

McMichael, Amy
论文数: 0 引用数: 0
h-index: 0
机构:
Wake Forest Baptist Med Ctr, Dept Dermatol, Winston Salem, NC USA Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Dlova, Ncoza C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ KwaZulu Natal, Dermatol Dept, Nelson R Mandela Sch Med, Durban, South Africa Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Betz, Regina C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, Sch Med, Bonn, Germany
Univ Hosp Bonn, Bonn, Germany Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel

Sprecher, Eli
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel
Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dept Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel
[8]
Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations
[J].
Onoufriadis, A.
;
Cabezas, A.
;
Ng, J. C. F.
;
Canales, J.
;
Costas, M. J.
;
Ribeiro, J. M.
;
Rodrigues, J. R.
;
McAleer, M. A.
;
Castelo-Soccio, L.
;
Simpson, M. A.
;
Fraternali, F.
;
Irvine, A. D.
;
Cameselle, J. C.
;
McGrath, J. A.
.
BRITISH JOURNAL OF DERMATOLOGY,
2021, 184 (05)
:935-943

Onoufriadis, A.
论文数: 0 引用数: 0
h-index: 0
机构:
St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

论文数: 引用数:
h-index:
机构:

Ng, J. C. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Randall Ctr Cell & Mol Biophys, London, England St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Rodrigues, J. R.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Politecn Leiria, Escola Super Tecnol & Gestao, Lab Associado LSRE LCM, Leiria, Portugal St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

McAleer, M. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hlth Ireland Crumlin, Paediat Dermatol, Dublin, Ireland St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

Castelo-Soccio, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Pediat Dermatol, Philadelphia, PA 19104 USA
Univ Penn, Sch Med, Philadelphia, PA 19104 USA St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

Simpson, M. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Guys Hosp, Sch Basic & Med Biosci, Dept Med & Mol Genet, London, England St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

Fraternali, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Randall Ctr Cell & Mol Biophys, London, England St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

Irvine, A. D.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hlth Ireland Crumlin, Paediat Dermatol, Dublin, Ireland
Trinity Coll Dublin, Clin Med, Dublin, Ireland St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

Cameselle, J. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Extremadura, Fac Med, Dept Bioquim & Biol Mol & Genet, Grp Enzimol, Badajoz, Spain St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England

McGrath, J. A.
论文数: 0 引用数: 0
h-index: 0
机构:
St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England
[9]
Whitmore SE., 1999, J Clin Dermatol, V2, P30
[10]
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
[J].
Wortmann, Saskia B.
;
Meunier, Brigitte
;
Mestek-Boukhibar, Lamia
;
van den Broek, Florence
;
Maldonado, Elaina M.
;
Clement, Emma
;
Weghuber, Daniel
;
Spenger, Johannes
;
Jaros, Zdenek
;
Taha, Fatma
;
Yue, Wyatt W.
;
Heales, Simon J.
;
Davison, James E.
;
Mayr, Johannes A.
;
Rahman, Shamima
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2020, 106 (02)
:256-263

Wortmann, Saskia B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria
PMU, A-5020 Salzburg, Austria
Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany
Helmholtz Zentrum, Inst Human Genet, D-85764 Neuherberg, Germany Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

论文数: 引用数:
h-index:
机构:

Mestek-Boukhibar, Lamia
论文数: 0 引用数: 0
h-index: 0
机构:
GOSgene Ctr Translat Omics, London WC1N 1EH, England
UCL Great Ormond St Inst Child Hlth, NIHR Gosh Biomed Res Ctr, London WC1N 1EH, England Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

van den Broek, Florence
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria
PMU, A-5020 Salzburg, Austria Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Maldonado, Elaina M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London WC1N 1EH, England Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Clement, Emma
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Dept Clin Genet, North East Thames Reg Genet Serv, London WC1N 3JH, England Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Weghuber, Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria
PMU, A-5020 Salzburg, Austria Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Spenger, Johannes
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria
PMU, A-5020 Salzburg, Austria Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Jaros, Zdenek
论文数: 0 引用数: 0
h-index: 0
机构:
Landesklinikum Zwettl, Dept Pediat, A-3910 Zwettl, Austria Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Taha, Fatma
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London WC1N 1EH, England Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Yue, Wyatt W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Nuffield Dept Med, Struct Genom Consortium, Oxford OX3 7DQ, England Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Heales, Simon J.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London WC1N 1EH, England
Natl Hosp Neurol, Neurometab Unit, Queen Sq, London WC1N 3BG, England
Great Ormond St Hosp Children NHS Fdn Trust, Dept Chem Pathol, London WC1N 3JH, England Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Davison, James E.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Children NHS Fdn Trust, Metab Unit, London WC1N 3JH, England Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Mayr, Johannes A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria
PMU, A-5020 Salzburg, Austria Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria

Rahman, Shamima
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London WC1N 1EH, England
Great Ormond St Hosp Children NHS Fdn Trust, Metab Unit, London WC1N 3JH, England Univ Childrens Hosp, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria