Associated Papers
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Morison LD et al.
European Journal of Human Genetics : Ejhg, 2023
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
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