Lv1
76 积分 2022-12-22 加入
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
2天前
已完结
A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype
8天前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
9天前
已完结
[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency]
9天前
已完结
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening
10天前
已关闭
Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort
10天前
已完结
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
14天前
已完结
Phenylketonuria mutations in Germany
14天前
已完结
Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers
21天前
已完结
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