Lv11
30 积分 2023-04-04 加入
Children with cavernous malformations of the central nervous system
3小时前
待确认
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
5天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
19天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
19天前
已完结
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
27天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
1个月前
已完结
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
1个月前
已完结
[Genetic analysis of a child with XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I]
1个月前
已完结
[A case of Antley-Bixler syndrome caused by novel POR mutations]
1个月前
已完结
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
1个月前
已完结
皖公网安备34019202002308
