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PIRS
Person
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Person
Publication
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Malgorzata Libik
External person at Second Faculty of Medicine
6 publications
Publications
publication
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 childhood
2023 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen, First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
publication
Complex CFTR alleles in the era of CFTR modulator therapy: a case report
2023 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen, First Faculty of Medicine
publication
Response to elexacaftor/tezacaftor/ivacaftor in intestinal organoids derived from people with cystic fibrosis
2022 |
Second Faculty of Medicine
publication
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population
2022 |
Second Faculty of Medicine
publication
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 registry
2021 |
Second Faculty of Medicine
publication
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients
2019 |
Second Faculty of Medicine
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