Lv12
10 积分 2023-02-28 加入
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage
1小时前
待确认
Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review
2小时前
已完结
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel
19小时前
已完结
NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome
1天前
已完结
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
8天前
已完结
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
14天前
已完结
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
14天前
已完结
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
14天前
已完结
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome
15天前
已完结
Breast cancer
17天前
已完结
皖公网安备34019202002308
