Lv4
730 积分 2025-06-09 加入
X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguise
5天前
已完结
New genotype-phenotype correlations and management recommendations for individuals with RERE variants
19天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
19天前
已关闭
Clinical presentation and follow-up of women affected by Brugada syndrome
1个月前
已完结
Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients
3个月前
已完结
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
5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
6个月前
已完结
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism
6个月前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
7个月前
已关闭
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
7个月前
已完结
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