作者:
Pasquelena,De Nittis [1]
;
Stephanie,Efthymiou [2]
;
Alexandre,Sarre [3]
;
Nicolas,Guex [4]
;
Jacqueline,Chrast [1]
;
Audrey,Putoux [5]
;
Tipu,Sultan [6]
;
Javeria,Raza Alvi [6]
;
Zia,Ur Rahman [6]
;
Faisal,Zafar [7]
;
Nuzhat,Rana [7]
;
Fatima,Rahman [8]
;
Najwa,Anwar [8]
;
Shazia,Maqbool [8]
;
Maha S,Zaki [9]
;
Joseph G,Gleeson [10]
;
David,Murphy [2]
;
Hamid,Galehdari [11]
;
Gholamreza,Shariati [12]
;
Neda,Mazaheri [11]
;
Alireza,Sedaghat [13]
;
SYNAPS Study Group [14]
;
Gaetan,Lesca [1]
;
Nicolas,Chatron [14]
;
Vincenzo,Salpietro [2]
;
Marilena,Christoforou [2]
;
Henry,Houlden [2]
;
William F,Simonds [15]
;
Thierry,Pedrazzini [16]
;
Reza,Maroofian [2]
;
Alexandre,Reymond [17]
作者单位:
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
[1]
Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
[2]
Cardiovascular Assessment Facility, University of Lausanne, Lausanne, Switzerland.
[3]
Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.
[4]
Service de Génétique, Hopital Femme Mere Enfant, Bron, France.
[5]
Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
[6]
Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.
[7]
Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
[8]
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
[9]
Department of Neuroscience and Pediatrics, Howard Hughes Medical Institute, La Jolla, California, USA.
[10]
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of).
[11]
Department of Medical Genetics, Faculty of Medicine, Ahvaz Jondishapour University of Medical Sciences, Ahvaz, Iran (the Islamic Republic of).
[12]
Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran (the Islamic Republic of).
[13]
Service de Genetique, Hospices Civils de Lyon, Lyon, France.
[14]
Metabolic Diseases Branch/NIDDK, National Institutes of Health, Bethesda, MD, USA.
[15]
Experimental Cardiology Unit, Department of Cardiovascular Medicine, University of Lausanne, Lausanne, Switzerland.
[16]
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland alexandre.reymond@unil.ch.
[17]
DOI
10.1136/jmedgenet-2020-107015
PMID
33172956
发布时间
2024-02-26