Classes
Publications
- SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis2012 | Faculty of Science, First 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
- Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia2009 | First Faculty of Medicine
- PAR1 deletion/duplication in patients with dyschondrosteosis or idiopathic short staturePublication without faculty affiliation
- Complex genetic analysis of SHOX gene in patients with dyschondrosteosis or idiopathic short staturePublication without faculty affiliation
- Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene2022 | First Faculty of Medicine
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | First Faculty of Medicine, Second Faculty of Medicine
- Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency2020 | First Faculty of Medicine
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