Lv1
40 积分 2025-04-02 加入
Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait
29天前
已完结
Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in west Indian population
29天前
已关闭
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
1个月前
已完结
Lipids, Apolipoproteins, Statins, and Intracerebral Hemorrhage: A Mendelian Randomization Study
1个月前
已完结
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4
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
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population
1个月前
已完结
The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan
3个月前
已完结
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