Publications
- 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
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | Second Faculty of Medicine
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- Subtelomeric Rearrangement as a Cause of Microcephaly, Facial Dysmorp- hia and Mental2007 | Second Faculty of Medicine
- Fragile X-chromosome and other forms of X-linked mental retardation in individuals with autism2003 | Second Faculty of Medicine, Central Library of Charles University
- Williams-Beuren syndrome2000 | 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
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | Second Faculty of Medicine
- Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members2020 | Second Faculty of Medicine
- A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies2019 | Second Faculty of Medicine, Central Library of Charles University
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