Lv7
5003 积分 2021-06-21 加入
Arrhythmogenic Right Ventricular Cardiomyopathy in Monozygotic Twins—A Case Report
11天前
已完结
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations
2个月前
已完结
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease
2个月前
已完结
Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report
2个月前
已完结
De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature
2个月前
已完结
Analysis of the genes involved in Mendelian forms of low-renin hypertension in Chinese early-onset hypertensive patients
2个月前
已完结
Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy
2个月前
已完结
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
2个月前
已完结
The co-segregation of the MYL2 R58Q mutation in Chinese hypertrophic cardiomyopathy family and its pathological effect on cardiomyopathy disarray
3个月前
已完结
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy
3个月前
已完结
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