- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | First Faculty of Medicine
- Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis2020 | First Faculty of Medicine
- Germline mutations and large deletions of the APC gene in Czech FAP patientsPublication without faculty affiliation
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | Second Faculty of Medicine
- STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population2018 | Second Faculty of Medicine
- Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families2013 | First Faculty of Medicine
- SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia2016 | Second Faculty of Medicine
- Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis2012 | Faculty of Medicine in Pilsen, Second Faculty of Medicine
- Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms2007 | Second Faculty of Medicine
- Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families2013 | First Faculty of Medicine
- Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 12007 | Second Faculty of Medicine
- Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders2014 | First Faculty of Medicine
- Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease2022 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients2011 | Second Faculty of Medicine, First Faculty of Medicine
- Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients2011 | Second Faculty of Medicine
- Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 32016 | Second Faculty of Medicine, First Faculty of Medicine
- Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II2017 | First Faculty of Medicine
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 | First Faculty of Medicine
- Frequent Chromatin Rearrangements in Myelodysplastic Syndromes - What Stands Behind?2014 | First Faculty of Medicine
- Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions2020 | Central Library of Charles University
- Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma2014 | Faculty of Medicine in Pilsen
- Low incidence of factor VIII inhibitors in previously untreated patients during prophylaxis, on-demand treatment and surgical procedures, with Octanate (R): interim report from an ongoing prospective clinical study2011 | Second Faculty of Medicine
- Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease2014 | First Faculty of Medicine
- The prevalence of genetic variations in patients with hypertrophic and dilated cardiomyopathyPublication without faculty affiliation
- Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis2012 | Second Faculty of Medicine
- Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone2012 | Second Faculty of Medicine, Third Faculty of Medicine
- Low incidence of factor VIII inhibitors in previously untreated patients with severe haemophilia A treated with octanate((R)): Final report from a prospective study2018 | Second Faculty of Medicine