Publikace
- Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia2021 | 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
- Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found2020 | 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
- SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia2016 | 2. lékařská fakulta
- Hereditární spastické paraparézy: klinické a genetické aspekty2016 | 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
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