Lv11
49 积分 2023-08-28 加入
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease
5个月前
已完结
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome
7个月前
已完结
The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan
7个月前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
8个月前
已完结
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing
1年前
已关闭
Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions
1年前
已完结
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
1年前
已完结
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies
1年前
已完结
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing
1年前
已完结