Lv11
48 积分 2023-11-24 加入
Mechanistic insights into the interaction of cardiac sodium channel Nav1.5 with MOG1 and a new molecular mechanism for Brugada syndrome
1小时前
待确认
Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency
4天前
已完结
Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing
7天前
已完结
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
10天前
已完结
Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol
10天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
14天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
14天前
已完结
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
14天前
已完结
[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China]
19天前
已完结
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
28天前
已完结
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