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MUDr. Katalin Štěrbová
Akademický pracovník na 2. lékařská fakulta
74 publikací
Publikace
publication
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
2018 |
2. lékařská fakulta
publication
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
2015 |
2. lékařská fakulta
publication
Synchronization as adjustment of information rates: Detection from bivariate time series
2001 |
2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
publication
Synchronization and information flow in EEGs of epileptic patients
2001 |
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 |
2. lékařská fakulta
publication
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023 |
2. lékařská fakulta
publication
Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy
2023 |
2. lékařská fakulta
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