Publications
- 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
- Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient2019 | Second Faculty of Medicine
- Hereditary motor neuropathies2016 | Second Faculty of Medicine
- MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin2015 | Second Faculty of Medicine
- Hereditary neuropathy +12015 | Second Faculty of Medicine
- Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay2014 | Second Faculty of Medicine
- 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
- 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
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