Publications
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | Second Faculty of Medicine
- A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy2021 | Second Faculty of Medicine
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy2021 | Second Faculty of Medicine
- De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia2019 | Second Faculty of Medicine
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | Second Faculty of Medicine
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | Second Faculty of Medicine
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Second Faculty of Medicine, Central Library of Charles University
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | Second Faculty of Medicine
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | Second Faculty of Medicine
Loading network view...