Publications
- Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly2018 | First Faculty of Medicine, Second 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
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | Second Faculty of Medicine
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | First Faculty of Medicine, Faculty of Physical Education and Sport, 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
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | Second Faculty of Medicine
- An inherited 2q13 deletion in a patient with Marfan syndromePublication without faculty affiliation
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Second Faculty of Medicine, Central Library of Charles University
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | Second Faculty of Medicine
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