Publications
- Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system2018 | Second Faculty of Medicine
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study2017 | Second Faculty of Medicine, Faculty of Pharmacy in Hradec Králové
- A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening2016 | Second Faculty of Medicine, Third Faculty of Medicine
- Results of expanded newborn screening in the Czech Republic2014 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations2014 | Second Faculty of Medicine, Third Faculty of Medicine
- Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease2014 | Second Faculty of Medicine
- 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
- Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity2013 | Second Faculty of Medicine
- A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe2013 | Second Faculty of Medicine
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