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258 积分 2026-04-13 加入
Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report
1天前
已完结
男性X连锁Alport综合征COL4A5突变嵌合体病例报道及文献复习
13天前
已完结
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
15天前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
17天前
已完结
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
17天前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
17天前
已完结
Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease
23天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
28天前
已完结
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing
28天前
已完结
Dystrophic epidermolysis bullosa characterized by mucosal lesions in a Chinese familial case with a novel compound heterozygous mutation of COL7A1
29天前
已完结
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