Lv11
50 积分 2024-12-25 加入
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1
9小时前
求助中
Developmental epileptic encephalopathy in DLG4‐related synaptopathy
6天前
已完结
Developmental epileptic encephalopathy in DLG4-related synaptopathy
10天前
已完结
Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy
21天前
已完结
Familial mesial temporal lobe epilepsy phenotype is associated with novel LGI1 variants: A report of two families
1个月前
已完结
Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy
1个月前
已完结
[Correlation between genotype and clinical phenotype in hypertrophic cardiomyopathy families with MYH7-R453C mutation]
1个月前
已完结
2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines
1个月前
已完结
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