Lv12
30 积分 2025-05-01 加入
A nonsense mutation in VHL causing Von Hippel-Lindau syndrome in a large Chinese family-a genetic study of familial neoplastic disease
1小时前
已完结
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population
14天前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
23天前
已完结
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10
26天前
已完结
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations
1个月前
已完结
A case report of childhood Farber's disease and literature review
1个月前
已关闭
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
1个月前
已完结
A case of cernunnos immunodeficiency with a novel genetic mutation
1个月前
已关闭
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