Publications
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | Second Faculty of Medicine
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | Second Faculty of Medicine
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | Second Faculty of Medicine
- Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis2007 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Subtelomeric Rearrangement as a Cause of Microcephaly, Facial Dysmorp- hia and Mental2007 | Second Faculty of Medicine
- Chromosomal examination in medicine2002 | Second Faculty of Medicine
- 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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