Publications
- Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients2014 | 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
- Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes2006 | Second Faculty of Medicine
- Intra-operative evaluation of cochlear implant recipients with GJB2 - related deafness2003 | Second Faculty of Medicine, Central Library of Charles University
- Intra - operative evaluation of cochlear implant recipients with GJB2 related deafness2003 | 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
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