Publications
- A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications2014 | Second Faculty of Medicine
- Children autism: a review of current knowledge2014 | Second Faculty of Medicine
- Syndrome of the fragile x chromosome with Tremor/Ataxia (FXTAS): a pilot study in a group of patients with ataxia of unknown aetiology2007 | Second Faculty of Medicine
- Diagnostic possibilities of Prader-Willi and of Angelman syndromes2005 | Second Faculty of Medicine
- Childhood autism: an overview of current knowledge2004 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Psychosocial factors associated with genetic testing for some of hereditary forms of cancer2003 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | Second Faculty of Medicine, First Faculty of Medicine
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | Second Faculty of Medicine
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | Second Faculty of Medicine, Faculty of Science
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023 | Second Faculty of Medicine
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