Lv5
1090 积分 2022-10-31 加入
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
1天前
待确认
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
1天前
待确认
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
1天前
待确认
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
1天前
待确认
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
4天前
已完结
Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study
7天前
已关闭
Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6
18天前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
18天前
已完结
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy
18天前
已关闭
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
19天前
已完结
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