Publikace
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B22018 | 2. lékařská fakulta
- Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser2018 | 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
- BRAT1 links Integrator and defective RNA processing with neurodegeneration2022 | Přírodovědecká fakulta, Ústřední knihovna
- Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity2022 | Přírodovědecká fakulta, Ústřední knihovna
- Genetic Testing for Malformations of Cortical Development2022 | 2. lékařská fakulta
- GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?2021 | 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
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