Lv11
30 积分 2024-02-27 加入
Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy
9小时前
求助中
N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
7天前
已完结
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
8天前
已完结
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
8天前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
1个月前
已完结
[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency]
1个月前
已关闭
The spectrum of mutations causing end-plate acetylcholinesterase deficiency
2个月前
已完结
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]
2个月前
已关闭
CYP1B1genotype influences the phenotype in primary congenital glaucoma and surgical treatment
2个月前
已关闭
Mutations in SOHLH1 gene associate with nonobstructive Azoospermia
2个月前
已完结
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