Lv1
58 积分 2025-07-07 加入
Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy
3天前
已完结
High‐level mosaic monosomy 21 in a 13‐year‐old girl: Case report and review of the literature
16天前
已完结
Molecular diagnostic dilemmas in Rett syndrome
1个月前
已完结
[Association of mutation types and distribution characteristics of dystrophin gene with clinical symptoms in Chinese population]
1个月前
已完结
The clinical and genetic landscape of early‐onset thrombophilia in Japan
5个月前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
5个月前
已完结
[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency]
5个月前
已完结
Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism
5个月前
已完结
Genetic analysis of 18 families with tuberous sclerosis complex
6个月前
已完结
Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations
7个月前
已完结
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