Publikace
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | 2. lékařská fakulta
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | 2. lékařská fakulta
- Genetické příčiny epilepsi í2018 | 2. lékařská fakulta
- Targeted massively parallel sequencing of a representative cohort of Czech patients with various rare aortopathies demonstrates the clinical utility of genetic testing and the need for a multidisciplinary approach to at risk families2018 | 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
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | 2. lékařská fakulta
- A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people2023 | 2. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni, 3. lékařská fakulta
- COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria2023 | 1. lékařská fakulta, 2. lékařská fakulta
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