Publikace
- 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
- Prot2HG: a database of protein domains mapped to the human genome2020 | 2. lékařská fakulta
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | 2. lékařská fakulta
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | 2. lékařská fakulta
- Polygenic burden in focal and generalized epilepsies2019 | 2. lékařská fakulta
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | 2. lékařská fakulta
- Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene2016 | 2. lékařská fakulta
Loading network view...
