Publications
- The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood2023 | Second Faculty of Medicine, Faculty of Medicine in Pilsen, First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
- Complex CFTR alleles in the era of CFTR modulator therapy: a case report2023 | Second Faculty of Medicine, Faculty of Medicine in Pilsen, First Faculty of Medicine
- Response to elexacaftor/tezacaftor/ivacaftor in intestinal organoids derived from people with cystic fibrosis2022 | Second Faculty of Medicine
- Mutational Spectrum of the CFTR Gene in the Kazakhstan Population2022 | Second Faculty of Medicine
- Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry2021 | Second Faculty of Medicine
- Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients2019 | Second Faculty of Medicine
Loading network view...