Total number of publications: 76
2026
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Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2
EP Europace, year: 2026, volume: 28, edition: 2, DOI
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Kongenitální „protein-losing enteropathy“, způsobená výskytem patogenní sekvenční varianty v genu PLVAP
Year: 2026, type: Conference abstract
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Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics
Orphanet Journal of Rare Diseases, year: 2026, volume: 21, edition: 1, DOI
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Vzájemné doplňování se metod NGS-WES a array CGH+SNP v rutinní diagnostice vrozených onemocnění
Year: 2026, type: Conference abstract
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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Algoritmus diagnostiky maligní hypertermie
Year: 2025, type: Article in Periodical (without peer review)
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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