Publikace
- Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review2021 | 1. lékařská fakulta, 2. lékařská fakulta
- A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy2021 | 2. lékařská fakulta
- Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients2021 | 2. lékařská fakulta
- The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region2021 | 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
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects2020 | 2. lékařská fakulta
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