Total number of publications: 61
2025
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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
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Analýza variability délky cyklu u pacient-specifických hiPSC kardiomyocytů
Year: 2024, type: Conference abstract
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Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases
SCIENTIFIC REPORTS, year: 2024, volume: 14, edition: 1, DOI
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Effect of isoprenaline and arrhythmogenic conditions on the spontaneous electrical activity of hiPSC-CM with Y4734C-RYR2 variant
Year: 2024, type: Conference abstract
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Generation of human induced pluripotent stem cell lines from patients with a RYR2 gene variant c.14201A>G (p.Y4734C): Implications for idiopathic ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia
Stem cell research, year: 2024, volume: 81, edition: December 2024, DOI
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Genetic background of Czech myopathy patients.
Year: 2024, type: Conference abstract
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Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients
Journal of Neuromuscular Diseases, year: 2024, volume: 11, edition: 5, DOI
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Genetické pozadí pacientů s idiopatickou fibrilací komor
Year: 2024, type: Conference abstract