Publications
- Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction2020 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Rare variants in known and novel candidate genes predisposing to statin-associated myopathy2016 | First Faculty of Medicine, Central Library of Charles University
- Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci2016 | First Faculty of Medicine, Central Library of Charles University
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | First Faculty of Medicine
- The metabolic and molecular study in six children with short-chain acyl-CoA dehydrogenase deficiencyPublication without faculty affiliation
- Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 20222023 | First Faculty of Medicine, Centre for Knowledge and Technology Transfer
- Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease2022 | First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
- Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease2021 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Diagnostic methods in cardiovascular diseases2021 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
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