- Gastrointestinal stromal tumors - Summary of mutational status of the primary/secondary KIT/PDGFRA mutations, BRAF mutations and SDH defects2019 | Central Library of Charles University, Second Faculty of Medicine
- Molecular pathology of heme biosynthesis. Porphobilinogen deaminase: Novel mutation in Czech and Slovak patients with acute intermittent porphuriaPublication without faculty affiliation
- S65C and other mutations in the Haemochromatosis gene in the Czech population2005 | Third Faculty of Medicine, Faculty of Physical Education and Sport
- Three novel mutations in MODY and its phenotype in three different Czech families2010 | Third Faculty of Medicine, Faculty of Medicine in Pilsen
- Absence of BRAF mutation in pheochromocytoma and paraganglioma2017 | Central Library of Charles University, First Faculty of Medicine, Second Faculty of Medicine
- A database of germline p53 mutations in cancer-prone families1998 | Second Faculty of Medicine
- Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency2020 | Second Faculty of Medicine
- Six novel mutations in the GCK gene in MODY patients2007 | Third Faculty of Medicine
- Mutation frequence of LPL gene in patients with hyperlipoproteinemia2001 | Faculty of Physical Education and Sport
- Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families2013 | First Faculty of Medicine
- HFE gene mutations in patients with rheumatic diseases2005 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Physical Education and Sport
- Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms2007 | Second Faculty of Medicine
- Thrombopgilic mutation by women with serious pregnancy complications2012 | Publication without faculty affiliation
- Detection of Various Mutations in KRAS Gene on a Commercial Chip-CE Instrument2008 | Faculty of Science
- CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel2013 | Second Faculty of Medicine
- Paraganglioma in a 13-year-old girl: a novel SDHB gene mutation in the family?2010 | First Faculty of Medicine
- Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome2008 | Second Faculty of Medicine
- AML-associated mutation of nucleophosmin compromises its interaction with nucleolin2018 | Central Library of Charles University
- Unusual cause of stroke: CADASIL with novel mutation in Czech patient2006 | First Faculty of Medicine, Third Faculty of Medicine
- RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest2009 | First Faculty of Medicine
- Clinical significance of heterozygotic mutations of the HFE gene in chronic hepatitis C2007 | Third Faculty of Medicine
- Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers.2010 | First Faculty of Medicine
- Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in CFTR gene1997 | Second Faculty of Medicine
- Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors2010 | Central Library of Charles University
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | First Faculty of Medicine
- Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy2012 | Third Faculty of Medicine
- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | Second Faculty of Medicine
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy2016 | Second Faculty of Medicine
- Patient with three EGFR mutations - gradual development of resistance to previous targeted treatment2018 | Faculty of Science, Faculty of Medicine in Pilsen
- Phenotype Associated with the H626P Mutation and Other Changes in the TGFBI Gene in Czech Families2008 | First Faculty of Medicine