Beata Csanyi
Szeged, CS, Hungary
Last Updated: 09/26/2026
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Found 8 publications
Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review.
Journal: Frontiers in cardiovascular medicine
Published: August 16, 2022
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Journal: Diagnostics (Basel, Switzerland)
Published: April 11, 2022
Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.
Journal: Cardiovascular research
Published: May 13, 2020
Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
Journal: International heart journal
Published: May 13, 2017
A novel 'splice site' HCN4 Gene mutation, c.1737+1 G>T, causes familial bradycardia, reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability.
Journal: International journal of cardiology
Published: January 04, 2017
Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.
Journal: The Canadian journal of cardiology
Published: November 25, 2015
Showing 1-8 of 8
Last Updated: 09/26/2026