Lv2
168 积分 2024-08-06 加入
[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia]
14小时前
待确认
Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns
14小时前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020
14小时前
已完结
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
14小时前
已完结
Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
3天前
求助中
Six Different Point Mutations in Seven Danish Families with Symptomatic Protein C Deficiency
3天前
已完结
[Pedigree survey in a family with hereditary protein S deficiency]
3天前
已完结
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
3天前
已完结
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
3天前
已关闭
A novel splicing mutation (894-9 G --> A) of the MEN1 gene responsible for multiple endocrine neoplasia type 1
8天前
已完结
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