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Controllable
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MUDr. Katalin Štěrbová
Academic staff at Second Faculty of Medicine
74 publications
Publications
publication
Diagnostic implications of genetic copy number variation in epilepsy plus
2019 |
Second Faculty of Medicine
publication
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
2019 |
Second Faculty of Medicine
publication
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond
2018 |
Second Faculty of Medicine
publication
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
2017 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Structural alterations of the language connectome in children with specific language impairment
2015 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Analysis of Psychological Profile and Video-EEG Monitoring in Sleep in Children with Developmental Dysphasia
2009 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Nonlinear analysis of the sleep EEG in children with pervasive developmental disorder
2008 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Weak sleep EEG synchronization in children with autism spectrum disorder
2006 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Postnatal hypobaric hypoxia in rats impairs water maze learning and the morphology of neurones and macroglia in cortex and hippocampus
2003 |
Second Faculty of Medicine
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
Second Faculty of Medicine
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