Publications
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
- 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 | Second Faculty of Medicine
- Charcot-Marie-Tooth 1 (CMT1) and tomaculous neuropathy (HNPP) - Evidence of specific DNA duplications and deletions in the area of 17p11.2-12 by means of a set of dinucleotide markers1999 | Second Faculty of Medicine
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | Second Faculty of Medicine
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | Second Faculty of Medicine
- SPG11: clinical and genetic features of seven Czech patients and literature review2022 | First Faculty of Medicine, Second Faculty of Medicine
- Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome2022 | Second Faculty of Medicine
- Hereditary neuropathies in childhood2022 | Second Faculty of Medicine
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