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40 积分 2025-04-17 加入
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
1天前
已完结
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes
6天前
已完结
Screening for SH3TC2 variants in Charcot–Marie–Tooth disease in a cohort of Chinese patients
6天前
已完结
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
8天前
已完结
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
8天前
已完结
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
8天前
已完结
泛酸激酶相关神经变性病2例报告并文献复习
13天前
已完结
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications
21天前
已完结
Whole‐exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype
21天前
已完结
Evidence for 28 genetic disorders discovered by combining healthcare and research data
21天前
已完结
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