Lv5
1140 积分 2022-10-31 加入
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
6天前
已完结
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases ( IRDs ) in a Cohort of Eastern Iranian Patients
11天前
已完结
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation –A single centre experience of 56 cases
11天前
已完结
[A novel GATA4 mutation leading to congenital ventricular septal defect]
11天前
已完结
Clinical features and functional analysis of novel SCN9A variants causing congenital insensitivity to pain
12天前
已关闭
Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy
19天前
已完结
Clinical and genetic characterization of children with cubilin variants
21天前
已完结
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
22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
24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
24天前
已完结
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