Lv3
222 积分 2024-04-24 加入
The utility of hierarchical genetic testing in paediatric liver disease
3天前
已完结
儿童线粒体疾病相关癫痫62例的临床和遗传特征
3天前
已完结
Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease
4天前
已完结
Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran
5天前
已完结
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
5天前
已完结
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
6天前
已完结
Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver
11天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
12天前
已关闭
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single-center retrospective analysis
18天前
已完结
In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes
22天前
已完结
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