Lv31
228 积分 2026-04-13 加入
Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson’s disease by whole-exome sequencing
3天前
已完结
Werner syndrome due to homozygous WRN mutation through chromosome 8 region of homozygosity in a consanguineous family
6天前
已关闭
Genetic Basis of Childhood Cardiomyopathy
8天前
已完结
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
13天前
已完结
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
17天前
已完结
Birth Prevalence and Mutation Spectrum in Danish Patients with Autosomal Recessive Albinism
18天前
已完结
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
24天前
已完结
New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII
1个月前
已关闭
Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts
1个月前
已完结
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families
1个月前
已完结
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