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Publications

Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders

The Relevance of the Type of Ventricular Arrhythmia in Titin-Related Dilated Cardiomyopathy: A Multicenter Study

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study

Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating MYBPC3 Founder Variant Carriers

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

Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report