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Sanger sequencing
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MUDr. Barbora Straka Ph.D.
Academic staff at Second Faculty of Medicine
42 publications
Publications
publication
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration
2020 |
First Faculty of Medicine, Second Faculty of Medicine
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
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue
2024 |
Second Faculty of Medicine
publication
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Genetic testing in children enrolled in epilepsy surgery program. A real-life study
2023 |
Second Faculty of Medicine, Central Library of Charles University
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
Distinct patterns of interictal intracranial EEG in focal cortical dysplasia type I and II
2023 |
Second Faculty of Medicine
publication
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex
2022 |
Second Faculty of Medicine
publication
Genetic Testing for Malformations of Cortical Development
2022 |
Second Faculty of Medicine
publication
Genetic causes of malformations of cortical development - novel insights into pathogenesis and diagnostic approach
2022 |
Second Faculty of Medicine
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