- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | Second Faculty of Medicine
- RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk2016 | First Faculty of Medicine
- Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young2015 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
- Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios2014 | Publication without faculty affiliation
- An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome2015 | Second Faculty of Medicine
- Correlation of genotypes and phenotypes in patients with Duchenne and Becker muscular dystrophy caused by deletions in the dystrophine gene2002 | Publication without faculty affiliation
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- Interaction between TNFone and tetrapyrroles may account for their anti-genotoxic effects - a novel mechanism for DNA-protection2013 | First Faculty of Medicine
- Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland2019 | First Faculty of Medicine
- Congenital Central Hypoventilation Syndrome (Ondine's Curse)2015 | Faculty of Medicine in Hradec Králové
- Why has nature invented three stop codons of DNA and only one start codon?2012 | First Faculty of Medicine
- Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease2018 | First Faculty of Medicine, Second Faculty of Medicine
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
- Rare deleterious germline variants and risk of lung cancer2021 | Second Faculty of Medicine
- Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy2020 | Second Faculty of Medicine
- A rare large duplication of MLH1 identified in Lynch syndrome2021 | Faculty of Medicine in Pilsen
- Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke-Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas and Correlation With the Histopathologic Findings in 379 Biopsy Specimens2013 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Mutations in STK11 gene in Czech Peutz-Jeghers patients2009 | Second Faculty of Medicine
- Louis-Bar Syndrome of Ataxia Telangiectasia in Consanguinous Family2006 | Second Faculty of Medicine
- A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT2008 | Second Faculty of Medicine
- Alagille Syndrome Mimicking Biliary Atresia in Early Infancy2015 | Second Faculty of Medicine
- The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1 beta Mutations2020 | First Faculty of Medicine
- Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family2023 | First Faculty of Medicine
- Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy2019 | First Faculty of Medicine
- Expression, Epigenetic, and Genetic Changes of HNF1B in Colorectal Lesions: an Analysis of 145 Cases2020 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene2013 | First Faculty of Medicine
- Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 32013 | First Faculty of Medicine
- Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma2015 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients2016 | Second Faculty of Medicine
- Unpacking Pandora From Its Box: Deciphering the Molecular Basis of the SARS-CoV-2 Coronavirus2021 | Third Faculty of Medicine
