Publications
- Localized mosaic neurofibromatosis type 12022 | 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
- 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
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | 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
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