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Publicaties

Age-related penetrance of phospholamban p.Arg14del cardiomyopathy

Cardiac [99mTc]Tc-hydroxydiphosphonate uptake on bone scintigraphy in patients with hereditary transthyretin amyloidosis: an early follow-up marker?: an early follow-up marker?

Diagnostic yield and therapeutic implications of 25 years of specialized pediatric Marfan clinic

ECG-only Explainable Deep Learning Algorithm Predicts the Risk for Malignant Ventricular Arrhythmia in Phospholamban Cardiomyopathy

Novel risk predictor of arrhythmias for patients with potassium channel–related congenital long QT syndrome

A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

Deep neural network-based clustering of deformation curves reveals novel disease features in PLN pathogenic variant carriers

Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy

Multicentre experience with valve-sparing aortic root replacement by means of combined remodelling and external aortic ring annuloplasty in patients with Marfan syndrome

Pers/media

Gain-of-function mutation in ubiquitin ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues