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BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

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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: EJHG

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