Publikace
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | 2. lékařská fakulta
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | 2. lékařská fakulta
- Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene2012 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- High frequency of SH3TC2 mutations in Czech HMSN I patients2011 | 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
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | 2. lékařská fakulta
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | 2. lékařská fakulta
Loading network view...