Publications
- Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene2019 | First Faculty of Medicine
- Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness2017 | First Faculty of Medicine
- Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius2013 | Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics, Second Faculty of Medicine
- SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis2012 | First Faculty of Medicine
- Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population2011 | Faculty of Science, First Faculty of Medicine
- Cryptic Chromosomal Rearrangements in Children with Idiopathic Mental Retardation in the Czech Population2011 | First Faculty of Medicine
- MLPA analysis in children with mental retardationPublication without faculty affiliation
- 5. Sequencing2023 | First Faculty of Medicine, Third Faculty of Medicine
- Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels2022 | First Faculty of Medicine
- Evidence for the Association between the Intronic Haplotypes of Ionotropic Glutamate Receptors and First-Episode Schizophrenia2021 | Faculty of Science, First Faculty of Medicine, Central Library of Charles University
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