- Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G > A (p.Glu92Lys, E92K) mutations in North Caucasus2019 | 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
- Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening2002 | Second Faculty of Medicine
- Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis2011 | Second Faculty of Medicine
- Theranostics by testing CFTR modulators in patient-derived materials: The current status and a proposal for subjects with rare CFTR mutations2019 | Second Faculty of Medicine
- Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G -> A in diverse populations1998 | Second Faculty of Medicine
- Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis2018 | Second Faculty of Medicine
- Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis2016 | Second Faculty of Medicine
- Preimplantation Prenatal Diagnosis within the Framework of Reproductive Medicine and Rep-roductive Genetics1999 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Increased frequency of deltaF508 mutation carriers in men with non-obstructive azoospermia1999 | Second Faculty of Medicine
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations2009 | Second Faculty of Medicine
- Genetic influences in the formation of nasal polyps1991 | Central Library of Charles University
- Contemporary State of the Diagnosis of Cystic Fibrosis1999 | Second Faculty of Medicine
- Correction of CFTR function in intestinal organoids to guide treatment of Cystic Fibrosis2021 | Second Faculty of Medicine
- Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients2019 | Second Faculty of Medicine
- Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport2010 | Second Faculty of Medicine
- Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis2021 | Second Faculty of Medicine
- Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign2004 | Second Faculty of Medicine
- Common CFTR Haplotypes and Susceptibility to Chronic Pancreatitis and Congenital Bilateral Absence of the Vas Deferens2011 | Second Faculty of Medicine
- Proper Interpretation of Elastase-1 Concentration in Stool: Experience of the Prague CF Centre2002 | Second Faculty of Medicine
- Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR2015 | Second Faculty of Medicine
- Speeding up access to new drugs for CF: Considerations for clinical trial design and delivery2019 | Second Faculty of Medicine
- Response to elexacaftor/tezacaftor/ivacaftor in intestinal organoids derived from people with cystic fibrosis2022 | Second Faculty of Medicine
- Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in CFTR gene1997 | 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, Central Library of Charles University, Third Faculty of Medicine
- The current view of the diagnosis and new treatment options of Cystic Fibrosis2016 | Faculty of Medicine in Pilsen
- Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q131999 | Second Faculty of Medicine
- Elexacaftor-tezacaftor-ivacaftor for cystic fibrosis with a single Phe508del allele2019 | Second Faculty of Medicine
- Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci2010 | Second Faculty of Medicine
- Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis2009 | Publication without faculty affiliation