Lv1
42 积分 2021-12-03 加入
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
2天前
已关闭
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
2天前
已关闭
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
2天前
已完结
Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer
14天前
已完结
Precursor B‐cell acute lymphoblastic leukemia in a pediatric patient with Bainbridge–Ropers syndrome
14天前
已完结
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
14天前
已完结
[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria]
15天前
已完结
FSIP2plays a role in the acrosome development during spermiogenesis
16天前
已完结
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
17天前
已完结
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7
18天前
已完结
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