- 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 | 2. lékařská fakulta
- 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 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening2002 | 2. lékařská fakulta
- Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis2011 | 2. lékařská fakulta
- Theranostics by testing CFTR modulators in patient-derived materials: The current status and a proposal for subjects with rare CFTR mutations2019 | 2. lékařská fakulta
- Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G -> A in diverse populations1998 | 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
- Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis2016 | 2. lékařská fakulta
- Preimplantační prenatální diagnostika v rámci reprodukční medicíny a reprodukční genetiky1999 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Zvýšená frekvence nosičů mutace deltaF508 u mužů s neobstrukční azoospermií a těžkou oligospermií1999 | 2. lékařská fakulta
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations2009 | 2. lékařská fakulta
- Genetic influences in the formation of nasal polyps1991 | Ústřední knihovna
- Současný stav diagnostiky cystické fibrózy1999 | 2. lékařská fakulta
- Correction of CFTR function in intestinal organoids to guide treatment of Cystic Fibrosis2021 | 2. lékařská fakulta
- Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients2019 | 2. lékařská fakulta
- Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport2010 | 2. lékařská fakulta
- Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis2021 | 2. lékařská fakulta
- 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
- Common CFTR Haplotypes and Susceptibility to Chronic Pancreatitis and Congenital Bilateral Absence of the Vas Deferens2011 | 2. lékařská fakulta
- Proper Interpretation of Elastase-1 Concentration in Stool: Experience of the Prague CF Centre2002 | 2. lékařská fakulta
- Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR2015 | 2. lékařská fakulta
- Speeding up access to new drugs for CF: Considerations for clinical trial design and delivery2019 | 2. lékařská fakulta
- Response to elexacaftor/tezacaftor/ivacaftor in intestinal organoids derived from people with cystic fibrosis2022 | 2. lékařská fakulta
- Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in CFTR gene1997 | 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
- Současný pohled na diagnostiku a nové možnosti terapie cystické fibrózy2016 | Lékařská fakulta v Plzni
- Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q131999 | 2. lékařská fakulta
- Elexacaftor-tezacaftor-ivacaftor for cystic fibrosis with a single Phe508del allele2019 | 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
- Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis2009 | Publikace bez příslušnosti k fakultě