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Sly syndrome
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MUDr. Barbora Heřmanovská
External person at Second Faculty of Medicine
6 publications
Publications
publication
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy
2024 |
Second Faculty of Medicine, Central Library of Charles University
publication
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene
2023 |
Second Faculty of Medicine
publication
Genetic Testing for Malformations of Cortical Development
2022 |
Second Faculty of Medicine
publication
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
2021 |
Second Faculty of Medicine
publication
Long-term seizure dynamics are determined by the nature of seizures and the mutual interactions between them
2021 |
Second Faculty of Medicine
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