- Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis1996 | Ústřední knihovna
- Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport2010 | 2. lékařská fakulta
- Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening2002 | 2. lékařská fakulta
- Farmakoterapie cystické fibrózy2010 | 2. lékařská fakulta
- Recommendations for the classification of diseases as CFTR-related disorders2011 | 2. lékařská fakulta
- Terapeutické trendy cystické fibrózy2014 | 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
- Health-economic aspects of cystic fibrosis screening and therapy2014 | 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
- 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
- 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
- Antisense oligonucleotide eluforsen is safe and improves respiratory symptoms in F508DEL cystic fibrosis2020 | 2. lékařská fakulta
- Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement2020 | 2. lékařská fakulta
- Mutant CFTR Drives TWIST1 mediated epithelial-mesenchymal transition2020 | 2. lékařská fakulta
- Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the Gly551Asp-CFTR mutation: a phase 3, open-label extension study (PERSIST)2014 | 2. lékařská fakulta
- TMEM16A in Cystic Fibrosis: Activating or Inhibiting?2019 | 2. lékařská fakulta
- 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 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- GLPG1837, a CFTR potentiator, in p.Gly551Asp (G551D)-CF patients: An open-label, single-arm, phase 2a study (SAPHIRA1)2019 | 2. lékařská fakulta
- Elexacaftor-tezacaftor-ivacaftor for cystic fibrosis with a single Phe508del allele2019 | 2. lékařská fakulta