Lv1
40 积分 2025-08-12 加入
Guidelines and recommendations for testing of Cx26 mutations and interpretation of results
3天前
已关闭
Novel homozygous or compound heterozygous DNAH17 variants lead to male infertility characterized by multiple morphological abnormalities of the sperm flagella and asthenoteratozoospermia in humans
4天前
已完结
Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts
11天前
已完结
FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome
26天前
已完结
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1
1个月前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
1个月前
已完结
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry
1个月前
已完结
难治性病毒感染和原发噬血细胞性淋巴组织细胞增多症相关基因突变研究
1个月前
已完结
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients
1个月前
已完结
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria
1个月前
已完结
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