作者：
Fatima,Rahman [1]
;
Luisa,Marsili [2]
;
Domizia,Pasquetti [3]
;
Aboulfazl,Rad [4]
;
Muhammad,Nadeem Anjum [5]
;
Gabriela,Oprea [4]
;
Huma Arshad,Cheema [5]
;
Barbara,Vona [6]
;
Cesar,Augusto Alves [7]
;
Henry,Houlden [8]
;
Shazia,Maqbool [1]
;
Stephanie,Efthymiou [8]
;
Thomas,Smol [9]
;
Reza,Maroofian [10]
作者单位：
Department of Developmental-Behavioral Pediatrics, The Children's Hospital and University of Child Health Sciences, Lahore, Pakistan.
[1]
University of Lille, ULR7364 RADEME, CHU Lille, Service de Génétique Clinique, Lille, France.;Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.
[2]
Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Rome, Italy.
[3]
Arcensus Diagnostics, Rostock, Germany.
[4]
Department of Pediatric Gastroenterology Hepatology and Genetic Diseases, Children's Hospital and University of Child Health Sciences, Lahore, Pakistan.
[5]
Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.;Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
[6]
Division of Neuroradiology, Department of Radiology, Boston Children's Hospital - BCH Harvard Medical School, Boston, MA, USA.
[7]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
[8]
University of Lille, ULR7364 RADEME, CHU Lille, Service de Génétique Clinique, Lille, France.
[9]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. r.maroofian@ucl.ac.uk.
[10]
DOI
10.1038/s41431-024-01759-9
PMID
39668186
发布时间
2024-12-12
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