第一单位：
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
作者：
Frederike L,Harms [1]
;
Jessica Erin,Rexach [2]
;
Stephanie,Efthymiou [3]
;
Busra,Aynekin [3]
;
Hüseyin,Per [4]
;
Ayten,Güleç [4]
;
Sheela,Nampoothiri [5]
;
Hugo,Sampaio [6]
;
Rani,Sachdev [7]
;
Radka,Stoeva [8]
;
Kasiani,Myers [9]
;
Loren D M,Pena [10]
;
Theodosia A,Kalfa [11]
;
Marisa,Chard [12]
;
Megan,Klassen [13]
;
Megan,Pries [13]
;
Kerstin,Kutsche [14]
作者单位：
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[1]
Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
[2]
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
[3]
Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
[4]
Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India.
[5]
Department of Women and Children's Health, University of New South Wales, Randwick Campus, Randwick, NSW, Australia.;Sydney Children's Hospital, Randwick, NSW, Australia.
[6]
Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.;School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.
[7]
Department of Medical Genetics, Le Mans Hospital, Le Mans, France.
[8]
Division of Bone Marrow Transplant, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.;Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
[9]
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.;Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[10]
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.;Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[11]
Provincial Medical Genetics Program, Newfoundland and Labrador Health Services, St. John's, NL, Canada.;Department of Pediatrics, Memorial University Faculty of Medicine, St. John's, NL, Canada.
[12]
Provincial Medical Genetics Program, Newfoundland and Labrador Health Services, St. John's, NL, Canada.
[13]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.
[14]
DOI
10.1038/s41431-024-01563-5
PMID
38374468
发布时间
2024-08-02
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