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48 积分 2024-04-24 加入
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations
26天前
已完结
Identification and Characteristics of Novel Mutations in Nonsyndromic Monogenic Obesity
29天前
已完结
Impact of variants of uncertain significance of LDL receptor on phenotypes of familial hypercholesterolemia
1个月前
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
1个月前
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
1个月前
已完结
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
1个月前
已完结
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
1个月前
已完结
Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring
1个月前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
1个月前
已完结
Genetic landscape of Charcot–Marie–Tooth disease in Vietnam: A prospective multicenter study
1个月前
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