Publikace
- Okulofaryngeální muskulární dystrofie v populaci České republiky2013 | 2. lékařská fakulta
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | 2. lékařská fakulta
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | 2. lékařská fakulta
- GDAP1 mutations in Czech families with early-onset CMT2007 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates2007 | 2. lékařská fakulta
- Deformity páteře u hereditární motoricko-senzitivní neuropatie2005 | 2. lékařská fakulta
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve2004 | 2. lékařská fakulta
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | 2. lékařská fakulta
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | 2. lékařská fakulta
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