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MUDr. Katalin Štěrbová
Akademický pracovn ík na 2. lékařská fakulta
74 publikací
Publikace
publication
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
2019 |
2. lékařská fakulta
publication
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
2017 |
2. lékařská fakulta
publication
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
2017 |
2. lékařská fakulta
publication
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
2016 |
2. lékařská fakulta
publication
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
2016 |
2. lékařská fakulta
publication
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
2015 |
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
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