Publikace
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | 2. lékařská fakulta
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Ústřední knihovna
- Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members2020 | 2. lékařská fakulta
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects2020 | 2. lékařská fakulta
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | 2. l ékařská fakulta
- Polygenic burden in focal and generalized epilepsies2019 | 2. lékařská fakulta
- Genetické příčiny epilepsií2018 | 2. lékařská fakulta
- Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach2017 | 2. lékařská fakulta
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | 2. lékařská fakulta, Ústřední knihovna
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | 2. lékařská fakulta
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