Lv4
640 积分 2025-06-09 加入
Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients
5天前
已完结
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
2个月前
已完结
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
2个月前
已完结
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism
2个月前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
4个月前
已关闭
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
4个月前
已完结
Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy
4个月前
已关闭
Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6
5个月前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
5个月前
已关闭
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
5个月前
已完结
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