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Publikace
Studium
MUDr. Katalin Štěrbová
Akademický pracovník na 2. lékařská fakulta
74 publikací
Publikace
publication
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
2019 |
2. lékařská fakulta
publication
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
2019 |
2. lékařská fakulta
publication
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
2017 |
2. lékařská fakulta
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
2. lékařská fakulta
publication
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5
2023 |
2. lékařská fakulta
publication
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
2023 |
2. lékařská fakulta
publication
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
2023