Lv2
110 积分 2024-10-26 加入
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
8天前
已完结
Mfn2R364W, Mfn2G176S, and Mfn2H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage
1个月前
已完结
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
3个月前
已完结
A New Type of Ser Substitution for γ Arg-275 in Fibrinogen Kamogawa I Characterized by Impaired Fibrin Assembly
3个月前
已关闭
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
3个月前
已关闭
Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant
4个月前
已完结
USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients
4个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
4个月前
已关闭
LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene
5个月前
已完结
LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene
5个月前
已关闭
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