Lv11
20 积分 2023-02-08 加入
Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation
2小时前
待确认
Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco
2小时前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
4天前
已完结
The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients
9天前
已关闭
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
10天前
已完结
Culture and transfer of human blastocysts
11天前
已完结
Factor VIII gene mutations profile in 148 Chinese hemophilia A subjects
13天前
已完结
Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure
13天前
已关闭
Self‐improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family
13天前
已完结
Toenail Dystrophy With COL7A1 Glycine Substitution Mutations Segregates as an Autosomal Dominant Trait in 2 Families With Dystrophic Epidermolysis Bullosa
13天前
已关闭
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