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Autism
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MUDr. Katalin Štěrbová
Academic staff at Second Faculty of Medicine
74 publications
Publications
publication
De novo variants in neurodevelopmental disorders with epilepsy
2018 |
Second Faculty of Medicine
publication
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
2016 |
Second Faculty of Medicine
publication
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
2014 |
Second Faculty of Medicine
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
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
Second Faculty of Medicine
publication
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5
2023 |
Second Faculty of Medicine
publication
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
2023 |
Second Faculty of Medicine
publication
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
2023 |
Second Faculty of Medicine
publication
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023 |
Second Faculty of Medicine
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