Publikace
- 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 | 2. lékařská fakulta, Lékařská fakulta v Plzni, 1. lékařská fakulta, Lékařská fakulta v Hradci Králové, 3. lékařská fakulta
- Komplexní alely genu CFTR v éře CFTR modulátorů2023 | 2. lékařská fakulta, Lékařská fakulta v Plzni, 1. lékařská fakulta
- Response to elexacaftor/tezacaftor/ivacaftor in intestinal organoids derived from people with cystic fibrosis2022 | 2. lékařská fakulta
- Mutational Spectrum of the CFTR Gene in the Kazakhstan Population2022 | 2. lékařská fakulta
- 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 | 2. lékařská fakulta
- Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients2019 | 2. lékařská fakulta
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