Lv11
58 积分 2025-07-07 加入
[Association of mutation types and distribution characteristics of dystrophin gene with clinical symptoms in Chinese population]
8小时前
已完结
The clinical and genetic landscape of early‐onset thrombophilia in Japan
3个月前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
3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]
3个月前
已完结
Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism
4个月前
已完结
Genetic analysis of 18 families with tuberous sclerosis complex
4个月前
已完结
Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations
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]
6个月前
已完结
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
6个月前
已完结
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic
10个月前
已完结
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