Lv55
1010 积分 2023-08-30 加入
[A novel GATA4 mutation leading to congenital ventricular septal defect]
3天前
已完结
Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia
4天前
已完结
Application of Molecular Genetics for Diagnosing Familial Hypercholesterolemia in Norway: Results from a Family-Based Screening Program
8天前
已完结
Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia
8天前
已完结
Detección directa de mutaciones malignas en pacientes con miocardiopatía hipertrófica
9天前
已完结
[Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA]
10天前
已完结
Registry‐Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders
11天前
已完结
Results of Genetic Testing in 855 Consecutive Unrelated Patients Referred for Long QT Syndrome in a Clinical Laboratory
18天前
已关闭
Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus
21天前
已完结
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years
24天前
已完结
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