- Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis1996 | Ústřední knihovna
- A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis1998 | Ústřední knihovna
- Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign2004 | 2. lékařská fakulta
- Health-economic aspects of cystic fibrosis screening and therapy2014 | 2. lékařská fakulta
- Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype2004 | 2. lékařská fakulta
- Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels2000 | 2. lékařská fakulta
- Elexakaftor: modulátor proteinu CFTR nové generace2021 | 2. lékařská fakulta
- Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening2002 | 2. lékařská fakulta
- Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport2010 | 2. lékařská fakulta
- Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA2012 | 2. lékařská fakulta, Ústřední knihovna, 3. lékařská fakulta
- 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 | 2. lékařská fakulta
- Možnosti léčby cystické fibrózy - 1. část2007 | 2. lékařská fakulta
- Aktuální možnosti kauzální terapie cystické fibrózy v dětském věku2021 | Lékařská fakulta v Plzni
- Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene2009 | 2. lékařská fakulta
- Farmakoterapie cystické fibrózy2010 | 2. lékařská fakulta
- Frequency of the ΔF508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families1990 | 2. lékařská fakulta, Ústřední knihovna
- A large-scale study of the random variability of a coding sequence: a study on the CFTR gene2005 | 2. lékařská fakulta
- Recommendations for the classification of diseases as CFTR-related disorders2011 | 2. lékařská fakulta
- Terapeutické trendy cystické fibrózy2014 | 2. lékařská fakulta
- Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations2006 | 2. lékařská fakulta
- Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation1995 | 2. lékařská fakulta
- A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation2011 | 2. lékařská fakulta
- Současný pohled na diagnostiku a nové možnosti terapie cystické fibrózy2016 | Lékařská fakulta v Plzni
- Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease2009 | 2. lékařská fakulta
- Standards for the care of people with cystic fibrosis; establishing and maintaining health2024 | 2. lékařská fakulta
- Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci2010 | 2. lékařská fakulta
- Cystic fibrosis patients bearing both the common missense mutation GlyRIGHTWARDS ARROWAsp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus1992 | 2. lékařská fakulta
- Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis2018 | 2. lékařská fakulta
- Cystic Fibrosis Revisited - a Review Study2017 | Publikace bez příslušnosti k fakultě
- Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR2015 | 2. lékařská fakulta