Lv52
1303 积分 2021-04-29 加入
遗传领域，NGS，生信，儿童肿瘤
The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
18小时前
已完结
Caudal regression in fetus with de novo SMARCA2 pathogenic variant
3天前
已完结
Inferring compound heterozygosity from large-scale exome sequencing data
4天前
已完结
De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism
5天前
已关闭
Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy
5天前
已完结
EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling
6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
8天前
已完结
Common Diseases in Clinical Cohorts — Not Always What They Seem
10天前
已完结
Phenotypic complexities of rare heterozygous neurexin-1 deletions
10天前
已完结
Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility
10天前
已完结
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