Publications
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- Neurofibromatosis von Recklinghausen type 1 (NF1) - clinical picture and molecular-genetics diagnostic2015 | Second Faculty of Medicine, First Faculty of Medicine
- The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations2009 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | 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 | Second Faculty of Medicine, First Faculty of Medicine
- Localized mosaic neurofibromatosis type 12022 | Second Faculty of Medicine
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | Second Faculty of Medicine, First Faculty of Medicine
- Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities2021 | Second Faculty of Medicine
- Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier2020 | Second Faculty of Medicine, First Faculty of Medicine
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