Publications
- Natural history of KBG syndrome in a large European cohort2022 | Second Faculty of Medicine
- Cystic fibrosis newborn screening and CFSPID diagnostics2019 | 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
- 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
- Pilot newborn screening project for cystic fibrosis in the Czech Republic: Defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease2009 | Second Faculty of Medicine, Third Faculty of Medicine
- A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis2009 | Second Faculty of Medicine, Third 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
- The Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of Pilot Study2007 | Second Faculty of Medicine, Third Faculty of Medicine
- Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of a Pilot Study2007 | Second Faculty of Medicine
- Neonatal Screening for Cystic Fibrosis (Review)2005 | Second Faculty of Medicine, Third Faculty of Medicine
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