Publications
Total number of publications: 70
2025
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A variant in the SCN5A gene, M135V-Nav1.5, associated with idiopathic ventricular fibrillation: clinical, genetic, and functional data
Year: 2025, type: Conference abstract
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Algoritmus diagnostiky maligní hypertermie
Year: 2025
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Arytmogenní dopad varianty Y4734C v genu RYR2 asociované s idiopatickou fibrilací komor: analýza využívající pacient-specifické kardiomyocyty
Year: 2025, type: Conference abstract
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Effect of sex hormones on patient-specific cardiomyocytes of a female patient with catecholaminergic polymorphic ventricular tachycardia
Year: 2025, type: Conference abstract
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Functional analysis in three probands suffering from “true” idiopathic ventricular fibrillation
Year: 2025, type: Conference abstract
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Genetic and Structural Variations in Czech Patients With Congenital Myopathies
Clinical Genetics, year: 2025, DOI
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Komentář k operativnímu postupu NIKEZ - Algoritmus diagnostiky maligní hypertermie v České republice, praktické konsekvence
Anesteziologie a intenzivní medicína, year: 2025, volume: 36, edition: 2, DOI
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Pacient s idiopatickou fibrilací komor a dvěma variantami v genu KCNH2: klinická, genetická a funkční analýza
Year: 2025, type: Conference abstract
2024
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Analysis of calcium transients in cardiomyocytes derived from hiPSCs: the variant p. Y4734C in RYR2 vs. unrelated healthy controls
Year: 2024, type: Conference abstract
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Analýza repetic u myotonické dystrofie 1 pomocí nanopórového sekvenování
Year: 2024, type: Conference abstract