Lv1
80 积分 2022-09-24 加入
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides
10天前
已完结
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing
12天前
已关闭
The severe von Willebrand disease variant p.M771V leads to impaired anterograde trafficking of von Willebrand factor in patient-derived and base-edited endothelial colony-forming cells
13天前
已完结
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
14天前
已关闭
Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males
19天前
已完结
Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I
21天前
已关闭
ANGPTL3 Mutations in Unrelated Chinese Han Patients with Familial Hypercholesterolemia
24天前
已完结
Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure
27天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
28天前
已完结
Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin
1个月前
已完结
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