Publications
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | Second Faculty of Medicine, First Faculty of Medicine
- 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
- Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children2016 | Second Faculty of Medicine
- 45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology2013 | Second Faculty of Medicine
- Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing2012 | Second Faculty of Medicine
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- Early development of immunity in diGeorge syndrome2005 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Quantitative fluorescent polymerase chain reaction (QFPCR) in the prenatal and postnatal diagnosis of the most frequent aneuploide2003 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Medical genetics in reproductive medicine2002 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Chromosomal examination in medicine2002 | Second Faculty of Medicine
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