Publikace
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu, Přírodovědecká fakulta
- Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation2013 | 2. lékařská fakulta
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | 2. lékařská fakulta
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | 2. lékařská fakulta
- GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study2005 | 2. lékařská fakulta
- Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing2001 | 2. lékařská fakulta
- Charcot-Marie-Tooth - gonosomálně dominantní typ (CMTX1) - první nálezy mutací v genu pro connexin 32 v České republice2000 | 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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