Publications
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation2013 | Second Faculty of Medicine
- Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease2010 | Second Faculty of Medicine
- Connnexin 26 in children with cochlear implant2002 | Second Faculty of Medicine, Central Library of Charles University
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | Second Faculty of Medicine
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | Second Faculty of Medicine
- SPG11: clinical and genetic features of seven Czech patients and literature review2022 | First Faculty of Medicine, Second Faculty of Medicine
- Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome2022 | Second Faculty of Medicine
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