Publications
- 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
- Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA2012 | Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype-phenotype correlations, relevance for newborn screening and genetic testing2010 | 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
- Complex cytogenetic and molecular genetic diagnostics of congenital heart defectsPublication without faculty affiliation
- 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
- 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
- Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome2023 | Second Faculty of Medicine, Central Library of Charles University
- 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
- Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review2023 | Second Faculty of Medicine
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