Lv1
30 积分 2023-09-20 加入
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
11个月前
已完结
Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants
11个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
11个月前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
11个月前
已完结
[Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts]
1年前
已完结
[Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss]
1年前
已关闭
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
1年前
已完结
Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis
1年前
已完结
[Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency]
1年前
已完结
[Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region]
1年前
已完结
LINC00937 suppresses keloid fibroblast proliferation and extracellular matrix deposition by targeting the miR-28-5p/MC1R axis
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