Publications
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second 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
- De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome2020 | Second Faculty of Medicine
- Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome2019 | Second Faculty of Medicine, First Faculty of Medicine
- FOXP1-related intellectual disability syndrome: a recognisable entity2017 | Second Faculty of Medicine
- Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype2015 | Second Faculty of Medicine
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | Second Faculty of Medicine
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