Publikace
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | 2. lékařská fakulta
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | 2. lékařská fakulta
- Genetic heterogeneity in infantile spasms2019 | 2. lékařská fakulta
- Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies2018 | 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
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | 2. lékařská fakulta
- Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy2023 | 2. lékařská fakulta
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