Publikace
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | 2. lékařská fakulta
- The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations2009 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | 2. lékařská fakulta
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | 2. lékařská fakulta, 1. lékařská fakulta
- Lokalizovaná neurofibromatóza typu 1 v mozaice2022 | 2. lékařská fakulta
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | 2. lékařská fakulta, 1. lékařská fakulta
- Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities2021 | 2. lékařská fakulta
- Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier2020 | 2. lékařská fakulta, 1. lékařská fakulta
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020 | 2. lékařská fakulta
- A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype2019 | 2. lékařská fakulta, 1. lékařská fakulta
Loading network view...