Publikace
- Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy2011 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | 2. lékařská fakulta
- Paradoxes of neurogenetic programme: Charcoot Marie Tooth Diseases (CMT) - Hereditary motor sensory neuropathy (HMSN)2003 | 2. lékařská fakulta
- Klinický obraz, genetika a DNA vyšetření u hereditární motoricko-senzorické neuropatie2000 | 2. lékařská fakulta
- Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): Reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs2000 | 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
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | 2. lékařská fakulta
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