Publications
- 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
- Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity2022 | Faculty of Science, Central Library of Charles University
- Genetic Testing for Malformations of Cortical Development2022 | Second Faculty of Medicine
- GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?2021 | Second Faculty of Medicine
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | Second Faculty of Medicine
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | Second Faculty of Medicine
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | Second Faculty of Medicine
- STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population2018 | Second Faculty of Medicine
- Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins2018 | Second Faculty of Medicine
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B22018 | Second Faculty of Medicine
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