Publications
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | Second Faculty of Medicine
- Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene2019 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Hereditary motor neuropathies2016 | Second Faculty of Medicine
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | Second Faculty of Medicine
- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | Second Faculty of Medicine, Central Library of Charles University
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
- The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region2021 | Second Faculty of Medicine
- Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia2021 | Second Faculty of Medicine
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