Publications
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | Second Faculty of Medicine
- Lowe Syndrome - Complex Diagnostics by Imaging Methods2005 | Second Faculty of Medicine
- Congenital muscular dystrophy with complete defect of merosine - First two cases confirmed in the Czech Republic - Typical phenotype and evidence based on skin biopsy2002 | Second Faculty of Medicine
- Poruchy rovnováhy v dětském věku2023 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Neurofibromatosis von Recklinghausen type I (NF1) - clinical picture in childhood, diagnosis and therapy2023 | Second Faculty of Medicine
- Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years2023 | Second Faculty of Medicine
- Children's Ophthalmology2022 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Education, Faculty of Medicine in Hradec Králové
- miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex2022 | Second Faculty of Medicine
- Basics of pediatric neurology2021 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Pediatric neurology2021 | First Faculty of Medicine, Second Faculty of Medicine
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