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A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene

artículo científico publicado en 2020

A novel HCN4 variant related to familial sinus bradycardia, left ventricular noncompaction and thoracic aortic aneurysm

artículo científico publicado en 2020

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

artículo científico publicado en 2015

Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene

artículo científico publicado en 2017

Clinical Applications for Next Generation Sequencing in Cardiology

Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family

artículo científico publicado en 2015

Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report

scientific article published on 23 January 2019

Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohort

artículo científico publicado en 2011

Intrafamilial variability of cardiovascular abnormalities in relation to p.R460H TGFBR2 mutation

scientific article published on 18 May 2020

Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?

artículo científico publicado en 2011

Protective effect of the KIR2DS1 gene in atopic dermatitis

artículo científico publicado en 2013

Sudden cardiac arrest in patients without overt heart disease: limited value of next generation sequencing

artículo científico publicado en 2018

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