External person at First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
Publications
- A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p152013 | 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
- Monochorionic biamniotic twins with a common yolk sac in the first trimester ultrasound scan - is there a higher risk of a congenital defect?2012 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Xp21 microdeletion syndrome: Severe cause of adrenal insufficiency, muscular dystrophy, plasma lipid disorder and developmental delay in a two-month-old child with failure to thrive2012 | Second Faculty of Medicine
- anamnézy; defekt jednoho genu2006 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
- Relationship between Genotype and Phenotype in Patients with Microdeletion of Chromosome 22q112001 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Turner Syndrome: Overview of Medical Problem, Status of theArt and the Proposal of Centralised Multidisciplinary Care in Childhood, Adolescence and in Adulthood2001 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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