Lv2
108 积分 2024-10-26 加入
[Genetic analysis of two Chinese pedigrees affected with Hereditary hypofibrinemia due to missense variants]
3天前
已完结
Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients
13天前
已关闭
Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries)
13天前
已关闭
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
24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
4个月前
已关闭
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
4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
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