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464 积分 2023-10-26 加入
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations
6分钟前
已关闭
Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes
3小时前
已完结
Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients
5天前
已完结
Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome
6天前
已完结
Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: A molecular diagnostic laboratory perspective
6天前
已完结
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
6天前
已完结
RET andGDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems
6天前
已完结
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
7天前
已完结
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China
8天前
已完结
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China
8天前
已完结
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