Publications
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes2006 | Second Faculty of Medicine
- 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
- Hereditary neuropathies in childhood2022 | Second Faculty of Medicine
- Basics of pediatric neurology2021 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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