Classes
- Biology II. +1D1103040 | Second Faculty of Medicine
- Medical Biology II +1DA0103039 | Second Faculty of Medicine
- Medical Biology I +1D0102337 | Second Faculty of Medicine
- Lékařská biologie II +1D0103039 | Second Faculty of Medicine
- Medical biology and human geneticsD09010005 | Second Faculty of Medicine
- Cell +1D1101001 | Second Faculty of Medicine
- Biology I. +1D1102338 | Second Faculty of Medicine
- Medical biology I +1DA0102337 | Second Faculty of Medicine
- OS - Advances in Molecular Genetics +1DV01079 | Second Faculty of Medicine
Publications
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | First Faculty of Medicine, Second Faculty of Medicine
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | First Faculty of Medicine, Second Faculty of Medicine
- Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities2021 | Second Faculty of Medicine
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy2021 | Second Faculty of Medicine
- Genetics of neurodevelopmental disorders2021 | Second Faculty of Medicine
- Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier2020 | First Faculty of Medicine, Second Faculty of Medicine
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020 | Second Faculty of Medicine
- 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 | First Faculty of Medicine, Second Faculty of Medicine
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