Lv51
804 积分 2024-08-07 加入
Genetic analysis and preimplantation genetic diagnosis of Chinese Marfan syndrome patients
2天前
已完结
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family
2天前
已完结
A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia
3天前
已关闭
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
10天前
已完结
Aicardi-Goutières syndrome and dyschromatosis symmetrica hereditaria due to compound heterozygous mutation of ADAR1, presentation of two cases
11天前
已关闭
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome
23天前
已完结
FSIP2 plays a role in the acrosome development during spermiogenesis
1个月前
已完结
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
1个月前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships
2个月前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships
2个月前
已完结
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