Publications
- 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, Third Faculty of Medicine, Central Library of Charles University
- 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, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
- Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Medical genetics in reproductive medicine2002 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%1997 | Second Faculty of Medicine
- Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study2023 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
- Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic2023 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
- PRKAG2 syndrome as a highly arrhythmogenic eventuality in the differential diagnosis of hypertrophic cardiomyopathy - an example of two families with a confirmed causative DNA variant2023 | Second Faculty of Medicine, Central Library of Charles University
- Ablation for long QT syndrome: local or global repolarization effects?2023 | Central Library of Charles University
- Outcomes of personalised external aortic root support implantation in 100 patients in the Czech Republic2022 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
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