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
- 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
- Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome2020 | Second Faculty of Medicine
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | Second Faculty of Medicine
- The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME2020 | Second Faculty of Medicine
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | Second Faculty of Medicine
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | Second Faculty of Medicine
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | Second Faculty of Medicine
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