- A large-scale study of the random variability of a coding sequence: a study on the CFTR gene2005 | Second Faculty of Medicine
- Detection of two Alu insertions in the CFTR gene2008 | Second Faculty of Medicine
- Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients2019 | Second Faculty of Medicine
- Increased frequency of deltaF508 mutation carriers in men with non-obstructive azoospermia1999 | Second Faculty of Medicine
- Dilemma of the Results Interpretation of Molecular Genetic Analysis2008 | Publication without faculty affiliation
- Mutational Spectrum of the CFTR Gene in the Kazakhstan Population2022 | Second Faculty of Medicine
- The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy1991 | Second Faculty of Medicine
- Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of a Pilot Study2007 | 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
- Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene1992 | Second Faculty of Medicine
- Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival1997 | 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
- Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis1996 | Central Library of Charles University
- Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in CFTR gene1997 | Second Faculty of Medicine
- Identification of a novel CFTR gene mutation L320F in an atypical Czech cystic fibrosis patient1995 | Second Faculty of Medicine, Central Library of Charles University
- Molecular basis and modern therapeutic possibilities of genetic diseases - Cystic fibrosis as a model2000 | Second Faculty of Medicine
- Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene2009 | Second Faculty of Medicine
- Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations2006 | Second Faculty of Medicine
- Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity1995 | Central Library of Charles University
- Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories2009 | Second Faculty of Medicine
- Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe2000 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Cystic fibrosis2008 | Publication without faculty affiliation
- 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
- Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms2006 | Second Faculty of Medicine
- Prevalence of G551D, 1898+1G-A CFTR gene mutations in European populations reflects their ethnic composition and is associated with historic migrations1995 | Second Faculty of Medicine, Central Library of Charles University
- Contemporary State of the Diagnosis of Cystic Fibrosis1999 | Second Faculty of Medicine
- Preimplantation Prenatal Diagnosis within the Framework of Reproductive Medicine and Rep-roductive Genetics1999 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online1998 | Second Faculty of Medicine
- A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype-phenotype correlations, relevance for newborn screening and genetic testing2010 | Second Faculty of Medicine
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%1997 | Second Faculty of Medicine