Publications
- STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population2018 | Second Faculty of Medicine
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report2016 | Second Faculty of Medicine
- Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site2016 | Second Faculty of Medicine
- Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients2016 | Second Faculty of Medicine
- Hereditary motor neuropathies2016 | Second Faculty of Medicine
- Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom2015 | Second Faculty of Medicine
- Hereditary neuropathy +12015 | Second Faculty of Medicine
- Hereditary Ulceromutilating Sensory Neuropathy - Clinical, Electrophysiological and Molecular Genetic Study of Three Families2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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