Publikace
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | 2. lékařská fakulta
- A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy2021 | 2. lékařská fakulta
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | 2. lékařská fakulta
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome2020 | 2. lékařská fakulta
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | 2. lékařská fakulta
- The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME2020 | 2. lékařská fakulta
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | 2. lékařská fakulta
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | 2. lékařská fakulta
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | 2. lékařská fakulta
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