Publications
- Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review2021 | First Faculty of Medicine, Second Faculty of Medicine
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | Second Faculty of Medicine
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | Second Faculty of Medicine
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | Second Faculty of Medicine
- Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients2016 | Second Faculty of Medicine
- Hereditary neuropathy +12015 | Second Faculty of Medicine
- Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene2012 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Second Faculty of Medicine, Central Library of Charles University
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | Second Faculty of Medicine
Loading network view...
