Publications
- Complex CFTR alleles in the era of CFTR modulator therapy: a case report2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
- Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A > G2020 | 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
- The Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of Pilot Study2007 | Second Faculty of Medicine, Third Faculty of Medicine
- Highly preferential association of NonF508del CF mutations with the M470 allele2007 | Second Faculty of Medicine
- Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of a Pilot Study2007 | Second Faculty of Medicine
- Natural history of KBG syndrome in a large European cohort2022 | Second Faculty of Medicine
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic2019 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Cystic fibrosis newborn screening and CFSPID diagnostics2019 | Second Faculty of Medicine
- Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates2018 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
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