Lv1
100 积分 2026-08-12 加入
Functional analysis of 11 CYP21A2 variants reveals greater loss of enzyme activity in cis variants and improves genotype–phenotype correlation in 21-hydroxylase deficiency
8天前
已关闭
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
28天前
已完结
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study
1个月前
已完结
X-linked sideroblastic anemia in females
1个月前
已完结
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
1个月前
已完结
Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights
1个月前
已完结
Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients
2个月前
已完结
Revisiting pachyonychia congenita: a case‐cohort study of 815 patients
2个月前
已完结
Long-term Fundus Changes Due to Fundus Albipunctatus Associated With Mutations in the RDH5 Gene
2个月前
已关闭
Molecular Genetic Analysis of Newborns with Congenital Microcephaly
2个月前
已完结
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