- HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma2016 | Faculty of Medicine in Hradec Králové
- Evaluation of DHPLC analysis for mutation detection in haemophilia A2006 | First Faculty of Medicine
- Mutation detection in the CYP21B gene determining virilized and non-classical forms of steroid 21-hydroxylase deficiency2000 | Second Faculty of Medicine, Central Library of Charles University
- MECP2 mutation detection in Rett patiens from Czech and Slovak RepublicePublication without faculty affiliation
- factor V - Leiden and G20210A prothrombin mutation detection in patients from the east Bohemia region1999 | Publication without faculty affiliation
- Circulating tumor DNA detection in head and neck cancer: evaluation of two different detection approaches2017 | First Faculty of Medicine
- Detection of Various Mutations in KRAS Gene on a Commercial Chip-CE Instrument2008 | Faculty of Science
- Detection of Somatic Mutations by Denaturing DNA Electrophoresis on Commercial Chip-CE Instrument2008 | Faculty of Science
- Lethal lung thromboembolism in an oral contraceptive user, smoker, with factor V Leiden mutation detected post mortem2001 | Faculty of Medicine in Hradec Králové
- Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene2009 | Second Faculty of Medicine
- Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 12007 | Second Faculty of Medicine
- The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics2004 | Second Faculty of Medicine
- The peptide nucleic acids, efficient tools for molecular diagnosis (review)2004 | Second Faculty of Medicine
- Allelic heterogeneity of alkaptonuria in Central Europe1999 | Second Faculty of Medicine
- The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene2016 | Faculty of Medicine in Pilsen
- 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
- Detection of EGFR Mutations in Circulating Tumor DNA (ctDNA) Retrieved from Plasma - Interlaboratory Quality Assessment in the Czech Republic2018 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Central Library of Charles University
- Denaturing capillary electrophoresis for automated detection of L858R mutation in exon 21 of the epidermal growth factor receptor gene in prediction of the outcome of lung cancer therapy2010 | Faculty of Medicine in Pilsen
- Quantum dot-based forster resonace energy transfer bioanalysis2014 | Faculty of Science
- Genetic Analysis of Gitelman Syndrome Patients from the Czech Republic and Slovakia - Three Novel Mutations Found2006 | Faculty of Science, First Faculty of Medicine
- Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I2010 | First 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
- Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients2021 | First Faculty of Medicine
- A novel high-resolution chipCE assay for rapid detection of EGFR gene mutations and amplifications in lung cancer therapy by a combination of fragment analysis, denaturing CE and MLPA2010 | Faculty of Science
- Diagnostics algorithm of muscular dystrophies2019 | 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
- The use of peptide nucleic acids for in situ identification of human chromosomes2005 | Second Faculty of Medicine
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling2015 | First Faculty of Medicine
- Whole genome amplification induced bias in the detection of KRAS-mutated cell populations during colorectal carcinoma tissue testing2015 | Second Faculty of Medicine