换一批Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
第一作者：
Handley,M.T.
作者：
Handley,M.T. [1]
;
Morris-Rosendahl,D.J. [2]
;
Brown,S. [3]
;
Macdonald,F. [4]
;
Hardy,C. [5]
;
Bem,D. [6]
;
Carpanini,S.M. [7]
;
Borck,G. [8]
;
Martorell,L. [9]
;
Izzi,C. [10]
;
Faravelli,F. [11]
;
Accorsi,P. [12]
;
Pinelli,L. [13]
;
Basel-Vanagaite,L. [14]
;
Peretz,G. [15]
;
Abdel-Salam,G.M.H. [16]
;
Zaki,M.S. [17]
;
Jansen,A. [18]
;
Mowat,D. [19]
;
Glass,I. [20]
;
Stewart,H. [21]
;
Mancini,G. [22]
;
Lederer,D. [23]
;
Roscioli,T. [24]
;
Giuliano,F. [25]
;
Plomp,A.S. [26]
;
Rolfs,A. ;
Graham,J.M. ;
Seemanova,E. ;
Poo,P. ;
García-Cazorla,A. ;
Edery,P. ;
Jackson,I.J. ;
Maher,E.R. ;
Aligianis,I.A.
作者单位：
Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research
[1]
Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington
[2]
Albrecht Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany, Centogene
[3]
Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine
[4]
Institut de Pathologie et de Génétique, Gosselies, Belgium
[5]
Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin
[6]
Clinical Genetics, Churchill Hospital, Oxford, United Kingdom
[7]
Centre Hospitalier Universitaire de Nice, Hopital de l'Archet 2, Nice, France
[8]
Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia
[9]
West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, United Kingdom
[10]
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University
[11]
Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain
[12]
Institute of Human Genetics, Albert-Ludwigs University Medical Centre Freiburg, Freiburg, Germany
[13]
Molecular Genetics Section, Hospital Sant Joan de Deu, Barcelona, Spain
[14]
Department of Clinical Genetics, Amsterdam Medical Center, Amsterdam, Netherlands
[15]
Division of Clinical Genetics and Dysmorphology, Medical Genetics Institute, Cedars-Sinai Medical
[16]
Department of Obstetrics and Gynaecology, University of Brescia, Spedali Civili, Brescia, Italy
[17]
Pediatric Neurology Unit, Department of Pediatrics, UZ, Brussel, Belgium
[18]
Institute of Biology and Medical Genetics, Charles University Prague 2nd Medical School, Prague
[19]
Department of Genetics, Hospices Civils de Lyon, Bron, France
[20]
Department of Neuroradiology, Spedali Civili, Brescia, Italy
[21]
Institute of Human Genetics, University of Ulm, Ulm, Germany
[22]
MRC Human Genetics Unit, Medical Research Council and Institute of Genetics and Molecular Medicine
[23]
Department of Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
[24]
Division of Medical Genetics, Galliera Hospital, Genova, Italy
[25]
Department of Child Neurology and Psychiatry, Spedali Civili, Brescia, Italy
[26]
发布时间
2013-11-20
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Human mutation
Human mutation
686-696页
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