Publications
- GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?2021 | Second Faculty of Medicine
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Central Library of Charles University
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects2020 | Second Faculty of Medicine
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | Second Faculty of Medicine
- Polygenic burden in focal and generalized epilepsies2019 | Second Faculty of Medicine
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p152013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- 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
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