Lv73
3470 积分 2023-11-07 加入
From onset to blindness: a comprehensive analysis ofRPGR-associated X-linked retinopathy in a large cohort in China
4天前
已关闭
From onset to blindness: a comprehensive analysis ofRPGR-associated X-linked retinopathy in a large cohort in China
4天前
已完结
ATP7B variant spectrum in a French pediatric Wilson disease cohort
1个月前
已完结
-associated X-linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics
1个月前
已完结
Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已关闭
3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
1个月前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
1个月前
已完结
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants
2个月前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
2个月前
已完结
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