Publikace
- The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region2021 | 2. lékařská fakulta
- 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 | 2. lékařská fakulta, 1. lékařská fakulta
- Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant2020 | 2. lékařská fakulta
- STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population2018 | 2. lékařská fakulta
- Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients2016 | 2. lékařská fakulta
- Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 72024 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Genetic testing in children enrolled in epilepsy surgery program. A real-life study2023 | 2. lékařská fakulta, Ústřední knihovna
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | 2. lékařská fakulta
- SPG11: clinical and genetic features of seven Czech patients and literature review2022 | 2. lékařská fakulta, 1. lékařská fakulta
- Genetic Testing for Malformations of Cortical Development2022 | 2. lékařská fakulta
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