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
- Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations2020 | 2. lékařská fakulta
- Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene2019 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 22018 | 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
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient2017 | 2. lékařská fakulta
- Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene2016 | 2. lékařská fakulta
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