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80 积分 2024-08-06 加入
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
13天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
1个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
1个月前
已完结
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
2个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
2个月前
已完结
ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease
3个月前
已完结
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