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
- Complex approach towards patients with hypertrophic cardiomyopathy and indications to genetic testing2020 | Second Faculty of Medicine, Central Library of Charles University
- Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Current Diagnostic Strategies and Overview of Preimplantation, Prenatal and Postnatal DNA Diagnostics of Cystic Fibrosis in the Czech Republic2008 | Second Faculty of Medicine, Third Faculty of Medicine
- Medical genetics in reproductive medicine2002 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe2000 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Preimplantation Prenatal Diagnosis within the Framework of Reproductive Medicine and Rep-roductive Genetics1999 | 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
Loading network view...