Publications
- 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
- Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?2018 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor2017 | Second Faculty of Medicine, Central Library of Charles University
- Quantitative fluorescent polymerase chain reaction (QFPCR) in the prenatal and postnatal diagnosis of the most frequent aneuploide2003 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Medical genetics in reproductive medicine2002 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis1998 | Second Faculty of Medicine
- Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival1997 | 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
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