Lv5
1070 积分 2022-10-31 加入
Clinical and genetic characterization of children with cubilin variants
12小时前
待确认
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
18小时前
待确认
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
3天前
已完结
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
3天前
已完结
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
3天前
已完结
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
3天前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
5天前
已完结
Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study
8天前
已关闭
Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6
19天前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
19天前
已完结
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