- Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation2018 | 1. lékařská fakulta
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy2016 | 2. lékařská fakulta
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | 2. lékařská fakulta
- Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development2022 | 2. lékařská fakulta
- Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects2017 | 2. lékařská fakulta
- A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis2021 | 2. lékařská fakulta
- An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome2015 | 2. lékařská fakulta
- Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy2016 | Ústřední knihovna, 1. lékařská fakulta
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome2021 | 1. lékařská fakulta
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | 2. lékařská fakulta
- Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report2017 | 2. lékařská fakulta, 1. lékařská fakulta
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | 2. lékařská fakulta
- Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene2023 | 2. lékařská fakulta
- Tauopathy in the young autistic brain: novel biomarker and therapeutic targetPublikace bez příslušnosti k fakultě