- Clinical expression of mutations in genes coding for copper transporting ATP7A and ATP7BPublication without faculty affiliation
- Mutations of genes for cytochrome oxidase I-III in patients with acquired sideroblastic anemiaPublication without faculty affiliation
- Various phenotypes of disease associated with mutated DGKE gene2020 | Second Faculty of Medicine
- Obesity based on mutation of genes involved in energy balance2007 | Third Faculty of Medicine
- No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome2008 | Second Faculty of Medicine
- Effect of cytostatics on primary mammary cells with hederitary mutation in gene BRCA1/2Publication without faculty affiliation
- Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy2012 | Third Faculty of Medicine
- Novel mutation in genes for frequent X-linked metabolic diseases (X-ALD, Fabry disease, OTC deficiency). A prevalent mutation for late onset form of OTC deficiency +1Publication without faculty affiliation
- Our first experiences with genetic testing of patients with hypertrophic cardiomyopathy: mutations in genes for troponin T and troponin I2008 | Third Faculty of Medicine
- Synergistic response to oncogenic mutations defines gene class critical to cancer phenotype2008 | Faculty of Mathematics and Physics
- Whole genome sequencing of a clinical drug resistant Candida albicans isolate reveals known and novel mutations in genes involved in resistance acquisition mechanisms2021 | Faculty of Medicine in Pilsen, Central Library of Charles University
- Mutations in genes coding for ATP7B and ATP7A ( causing Wilson and Menkes Diseases) in Czech RepublicPublication without faculty affiliation
- Mutations in genes coding for ATP7A and ATP7B (causing Mankes and Wilson disease) in Czech RepublicPublication without faculty affiliation
- Molecular pathology of cholangiocellular carcinomas2019 | First Faculty of Medicine, Third Faculty of Medicine
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | Second Faculty of Medicine
- Mutations in genes affecting fertility of men - current routine laboratory genetic diagnostics and searching for more DNA segments and genes influencing spermatogenesis2016 | First Faculty of Medicine
- Next generation sequencing - a science tool or routine pathology?2021 | Second Faculty of Medicine, Central Library of Charles University
- Chronic lymphocytic leukemia patients with mutated IgVH genes have significantly higher plasma levels of basic fibroblast factor but not vascular endothelial growth factor +1Publication without faculty affiliation
- Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes2018 | Second Faculty of Medicine
- Narcolepsy is strongly associated with the T-cell receptor alpha locus2009 | First Faculty of Medicine
- Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutations in MeCP2 Gene2001 | Faculty of Physical Education and Sport
- Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis2018 | Second Faculty of Medicine
- High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas2023 | First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine
- May 2006 Update in Porphobilinogen Deaminase Gene Polymorphisms and Mutations Causing Acute Intermittent Porphyria. Comparison with the Situation in Slavic Population2006 | First Faculty of Medicine
- TP53 gene mutations are rare in nondysplastic Barrett's esophagus2006 | Second Faculty of Medicine
- Acquired uniparental disomy in bone-marrow cells of patients with myelodysplastic syndrome and complex karyotype2015 | First Faculty of Medicine
- Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report2018 | First Faculty of Medicine
- Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women2011 | First Faculty of Medicine, Faculty of Medicine in Pilsen