Publications
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | Second Faculty of Medicine
- De novo variants in neurodevelopmental disorders with epilepsy2018 | Second Faculty of Medicine
- Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes2017 | Second Faculty of Medicine
- Abnormal nocturnal events in children2015 | Second Faculty of Medicine
- Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia2015 | Second Faculty of Medicine
- Analysis of Psychological Profile and Video-EEG Monitoring in Sleep in Children with Developmental Dysphasia2009 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Epileptic seizures and syndromes in children2005 | Second Faculty of Medicine
- 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
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | Second Faculty of Medicine
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