第一作者:
Camille,Engel
作者:
Camille,Engel [1]
;
Stéphanie,Valence [2]
;
Geoffroy,Delplancq [3]
;
Reza,Maroofian [4]
;
Andrea,Accogli [5]
;
Emanuele,Agolini [6]
;
Fowzan S.,Alkuraya [7]
;
Valentina,Baglioni [8]
;
Irene,Bagnasco [9]
;
Mathilde,Becmeur-Lefebvre [10]
;
Enrico,Bertini [11]
;
Ingo,Borggraefe [12]
;
Elise,Brischoux-Boucher [13]
;
Ange-Line,Bruel [14]
;
Alfredo,Brusco [15]
;
Dalal K.,Bubshait [16]
;
Christelle,Cabrol [17]
;
Maria Roberta,Cilio [18]
;
Marie-Coralie,Cornet [19]
;
Christine,Coubes [20]
;
Olivier,Danhaive [21]
;
Valérie,Delague [22]
;
Anne-Sophie,Denommé-Pichon [23]
;
Marilena Carmela,Di Giacomo [24]
;
Martine,Doco-Fenzy [25]
;
Hartmut,Engels [26]
;
Kirsten,Cremer [27]
;
Marion,Gérard [28]
;
Joseph G.,Gleeson [29]
;
Delphine,Heron [30]
;
Joanna,Goffeney [31]
;
Anne,Guimier [32]
;
Frederike L.,Harms [33]
;
Henry,Houlden [34]
;
Michele,Iacomino [35]
;
Rauan,Kaiyrzhanov [36]
;
Benjamin,Kamien [37]
;
Ehsan Ghayoor,Karimiani [38]
;
Dror,Kraus [39]
;
Paul,Kuentz [40]
;
Kerstin,Kutsche [41]
;
Damien,Lederer [42]
;
Lauren,Massingham [43]
;
Cyril,Mignot [44]
;
Déborah,Morris-Rosendahl [45]
;
Lakshmi,Nagarajan [46]
;
Sylvie,Odent [47]
;
Clothilde,Ormières [48]
;
Jennifer Neil,Partlow [49]
;
Laurent,Pasquier [50]
;
Lynette,Penney [51]
;
Christophe,Philippe [52]
;
Gianluca,Piccolo [53]
;
Cathryn,Poulton [54]
;
Audrey,Putoux [55]
;
Marlène,Rio [56]
;
Christelle,Rougeot [57]
;
Vincenzo,Salpietro [58]
;
Ingrid,Scheffer [59]
;
Amy,Schneider ;
Siddharth,Srivastava ;
Rachel,Straussberg ;
Pasquale,Striano ;
Enza Maria,Valente ;
Perrine,Venot ;
Laurent,Villard ;
Antonio,Vitobello ;
Johanna,Wagner ;
Matias,Wagner ;
Maha S.,Zaki ;
Federizo,Zara ;
Gaetan,Lesca ;
Vahid Reza,Yassaee ;
Mohammad,Miryounesi ;
Farzad,Hashemi-Gorji ;
Mehran,Beiraghi ;
Farah,Ashrafzadeh ;
Hamid,Galehdari ;
Christopher,Walsh ;
Antonio,Novelli ;
Moritz,Tacke ;
Dinara,Sadykova ;
Yerdan,Maidyrov ;
Kairgali,Koneev ;
Chingiz,Shashkin ;
Valeria,Capra ;
Mina,Zamani ;
Lionel,Van Maldergem ;
Lydie,Burglen ;
Juliette,Piard
作者单位:
Centre de Génétique Humaine,Centre Hospitalier Régional Universitaire, Université de Franche-Comté
[1]
Service de Neurologie Pédiatrique, H?pital Armand Trousseau,APHP Sorbonne Université
[2]
Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology,University College
[3]
Department of Specialized Medicine, Division of Medical Genetics,McGill University Health Centre
[4]
Genetic Services of Western Australia,King Edward Memorial Hospital
[5]
Department of Molecular Genetics,Next Generation Genetic Polyclinic
[6]
Department of Neurology,Schneider Children’s Medical Center of Israel
[7]
UMR 1231 GAD, Inserm,Université de Bourgogne Franche Comté
[8]
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf
[9]
Unit of Medical Genetics,IRCCS Instituto Giannina Gaslini
[10]
Institute for Pathology and Genetics
[11]
Division of Medical Genetics, Department of Pediatrics,Hasbro Children’s Hospital
[12]
APHP, Sorbonne Université, Département de Génétique
[13]
Clinical Genetics and Genomics,Royal Brompton and Harefield NHS Foundation Trust
[14]
Department of Neurology,Perth Children’s Hospital
[15]
Service de Génétique Clinique, Centre Référence “Déficiences Intellectuelles de causes rares” (CRDI
[16]
Service de Médecine Génomique des Maladies Rares, H?pital Necker Enfants Malades,Institut Imagine
[17]
Department of Molecular Medicine,University of Pavia
[18]
Neonatal Intensive Care Unit,Institut Alix de Champagne
[19]
Aix Marseille Univ, INSERM,Marseille Medical Genetics Center, MMG
[20]
Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics,University of Munich
[21]
Clinical Genetics Department, Human Genetics and Genome Research Institute,National Research Centre
[22]
IRCCS Giannina Gaslini Institute
[23]
Hospices Civils de Lyon,Service de Génétique
[24]
Genomic Research Center,Shahid Beheshti University of Medical Sciences
[25]
Department of Medical Genetics, Faculty of Medicine,Shahid Beheshti University of Medical Sciences
[26]
Department of Pediatrics, Faculty of Medicine,Mashhad University of Medical Sciences
[27]
Department of Biology, Faculty of Science,Shahid Chamran University of Ahvaz
[28]
Laboratory of Medical Genetics,Translational Cytogenomics Research Unit, Bambino Gesù Children’s
[29]
Department of Translational Genomics, Center for Genomic Medicine,King Faisal Specialist Hospital
[30]
Department of Human Neurosciences, Institute of Child and Adolescent Neuropsychiatry,Sapienza
[31]
Division of Neuropsychiatry, Epilepsy Center for Children,Martini Hospital
[32]
Service de Génétique Clinique,CHR d’Orléans
[33]
Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences,Bambino Ges
[34]
Department of Medical Sciences,University of Torino
[35]
Department of Pediatrics, College of Medicine,Imam Abdulrahman Bin Faisal University
[36]
Department of Pediatrics, Division of Pediatric Neurology Saint-Luc University Hospital, and
[37]
Department of Pediatrics, Division of Neonatology,University of California San Francisco
[38]
Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, H?pital Arnaud de
[39]
Division of Neonatology, Saint-Luc university Hospital, and Institut of Clinical and Experimental
[40]
Medical Genetics Service and Laboratory of Cytogenetics, SIC Anatomia Patologica,“San Carlo
[41]
CHU Reims, Service de Génétique
[42]
Institute of Human Genetics,University of Bonn, School of Medicine & University Hospital Bonn
[43]
Clinical Genetics,C?te de Nacre University Hospital Center
[44]
University of California San Diego, Department of Neurosciences, Rady Children’s Institute for
[45]
Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP,Sorbonne University
[46]
Service de neuropédiatrie,Centre Hospitalier Régional Universitaire, Université de Franche-Comté
[47]
Division of Genetics and Genomics and Howard Hughes Medical Institute,Boston Children’s Hospital
[48]
Department of Pediatrics, IWK Health Centre,Dalhousie University
[49]
UOSD Neuro-oncology, IRCCS Giannina Gaslini
[50]
H?pital Femme Mère Enfant,Service de Neuropédiatrie
[51]
Department of Medicine, Austin Health,The University of Melbourne
[52]
Department of Neurology,Boston Children’s Hospital
[53]
Sackler Faculty of Medicine
[54]
Astana Medical University
[55]
S. D. Asfendiyarov Kazakh National Medical University Almaty
[56]
Department of Neurology and Neurosurgery,Asfendiyarov Kazakh National Medical University
[57]
Department of Neurology,The International Institute of Postraduate Education
[58]
Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Gén
[59]
发布时间
2023-10-26
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European journal of human genetics
European journal of human genetics
1023-1031页
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