Lv13
50 积分 2025-05-19 加入
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations
2天前
已完结
Molecular analysis of 12 Chinese patients with 11β‐hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
3天前
已完结
Experiences in the molecular genetic and histopathological evaluation of calpainopathies
4天前
已完结
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]
5天前
已完结
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency
5天前
已完结
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype
5天前
已完结
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
8天前
已完结
Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants
9天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
10天前
已完结
The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants
13天前
已完结
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