Publications
- 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
- 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
- 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
- Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing2012 | 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
- 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
- A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomaliesPublication without faculty affiliation
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