Publications
- GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?2021 | Second Faculty of Medicine
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | Second Faculty of Medicine
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | First Faculty of Medicine, Second Faculty of Medicine
- Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members2020 | Second Faculty of Medicine
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | Second Faculty of Medicine
- De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia2019 | Second Faculty of Medicine
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment2019 | Second Faculty of Medicine
- Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly2018 | First Faculty of Medicine, Second Faculty of Medicine
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | Second Faculty of Medicine
- Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins2018 | Second Faculty of Medicine
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