Lv4
674 积分 2025-07-18 加入
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]
6天前
已完结
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation
7天前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
13天前
已完结
[Clinical features and diagnosis of childhood leukoencephalopathy with cerebral calcifications and cysts in four cases]
18天前
已完结
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
18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
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome
1个月前
已完结
Combined Mutation of the <i>GATA2</i> Gene and <i>STAT5B</i> Gene in a Patient with Hypogammaglobulinemia and Autoimmunity
1个月前
已完结
Heterozygous RAD50 gene variant in a family with systemic sclerosis suggests role of impaired DNA repair mechanisms in disease pathogenesis
1个月前
已关闭
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
2个月前
已完结
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