Lv44
684 积分 2025-07-18 加入
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
21小时前
待确认
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
21小时前
已完结
Isolated Asymmetric Progressive Optic Neuropathy as a First Presentation of Charcot–Marie–Tooth Disease Type 2A
7天前
已完结
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation
8天前
已完结
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]
16天前
已完结
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation
16天前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
22天前
已完结
[Clinical features and diagnosis of childhood leukoencephalopathy with cerebral calcifications and cysts in four cases]
27天前
已完结
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
28天前
已完结
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
1个月前
已完结
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