Publications
- Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay2014 | Second Faculty of Medicine
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | Second Faculty of Medicine, Central Library of Charles University
- DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population2012 | Second Faculty of Medicine
- Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family2012 | Second Faculty of Medicine
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
- The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region2021 | Second Faculty of Medicine
- Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia2021 | Second Faculty of Medicine
- Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing2020 | Second Faculty of Medicine, First Faculty of Medicine
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