- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | Faculty of Science, First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- X-linked Microcephaly, Microphthalmia, Microcornea, Congenital Catarct, Hypogenitalism, Mental Deficiency Growth Retardation, Spasticity: Possible New Syndrome1996 | Second Faculty of Medicine
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | Second Faculty of Medicine
- Nationwide screening for Fabry disease in unselected stroke patients2021 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | First Faculty of Medicine
- Duchenn myopathy2011 | Publication without faculty affiliation
- Sex chromosome evolution: The remarkable diversity in the evolutionary rates and mechanisms2022 | Faculty of Science
- The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease2019 | First Faculty of Medicine
- Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout2016 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week2021 | First Faculty of Medicine
- Current and Future Therapeutical Options in Alport Syndrome2023 | First Faculty of Medicine
- Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene2014 | First Faculty of Medicine
- Screening of Fabry disease in patients with an implanted permanent pacemaker2023 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, Central Library of Charles University
- Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders2016 | First Faculty of Medicine