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70 积分 2025-07-30 加入
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
3天前
已完结
[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening]
28天前
已完结
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
7个月前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
11个月前
已完结