Lv41
668 积分 2023-08-09 加入
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia
1小时前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
1天前
已完结
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
6天前
已完结
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
7天前
已完结
Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China
8天前
已完结
Genetic diagnosis of familial hypercholesterolemia in Han Chinese
8天前
已完结
A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D
11天前
已完结
Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate
13天前
已完结
Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China
14天前
已完结
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