Lv4
770 积分 2025-03-17 加入
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma
6天前
已完结
A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review
6天前
已完结
A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma
6天前
已完结
A notable case report of May-Hegglin anomaly with immune complex-related nephropathy: a genetic and histological analysis
11天前
已完结
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines
11天前
已完结
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
11天前
已完结
Effect of familial clustering in the genetic screening of 235 French ALS families
19天前
已完结
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
1个月前
已完结
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11
1个月前
已完结
Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy
1个月前
已关闭
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