Lv76
4493 积分 2021-06-21 加入
Generation of a homozygous and heterozygous iPSC line carrying a variant of uncertain significance in CACNA1C, associated with Brugada syndrome
2天前
已完结
Novel presentation of CACNA1C variant as neonatal complete atrioventricular block, heart failure and non-compaction cardiomyopathy with oligogenic influences
2天前
求助中
Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics
10天前
已完结
Provocation testing in congenital long QT syndrome: A practical guide
11天前
已完结
AHA/ACC/ESC/WHF Expert Consensus Document: Second Universal Definition of Heart Failure (2026)
15天前
已完结
Heterozygous Prothrombin Mutation-Associated Thrombophilia
28天前
已完结
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75
29天前
已完结
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease
29天前
已完结
PARS2 deficiency impairs mitochondrial homeostasis and activates ferroptotic to drive developmental and epileptic encephalopathy
29天前
已完结
Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism
1个月前
已关闭
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