Lv51
870 积分 2025-06-09 加入
A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non‐syndromic postaxial polydactyly type A9 (PAPA9)
1个月前
已完结
X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguise
1个月前
已完结
New genotype-phenotype correlations and management recommendations for individuals with RERE variants
2个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
2个月前
已关闭
Clinical presentation and follow-up of women affected by Brugada syndrome
2个月前
已完结
Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients
5个月前
已完结
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
7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
7个月前
已完结
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism
7个月前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
9个月前
已关闭
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