Publications
- 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
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020 | Second Faculty of Medicine
- Neurofibromatosis von Recklinghausen type 1 (NF1) - clinical picture and molecular-genetics diagnostic2015 | Second Faculty of Medicine, First Faculty of Medicine
- Idiopathic Aqueductal Stenosis and Developmental Speech Disorder in Children with Neurofibromatosis von Recklinghausen type 1-Two Case Reports2012 | Second Faculty of Medicine
- The importance of advanced parental age in the origin of neurofibromatosis type 12012 | Second 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
- Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 12007 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 12007 | Second Faculty of Medicine
- Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations2005 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
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