Lv5
1080 积分 2022-10-31 加入
Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy
19小时前
待确认
Clinical and genetic characterization of children with cubilin variants
2天前
已完结
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
2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
5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
5天前
已完结
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
5天前
已完结
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
5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
7天前
已完结
Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study
10天前
已关闭
Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6
21天前
已完结
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