Publikace
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | 2. lékařská fakulta
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond2018 | 2. lékařská fakulta
- Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features2017 | 2. lékařská fakulta
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy2016 | 2. lékařská fakulta
- Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia2015 | 2. lékařská fakulta
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy2014 | 2. lékařská fakulta
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | 2. lékařská fakulta
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic2023 | 2. lékařská fakulta
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