Classes
Publications
- Analysis of common SHOX gene sequence variants and similar to 4.9-kb PAR1 deletion in ISS patients +12014 | Faculty of Science, First Faculty of Medicine
- 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
- SHOX gene deficiency - a cause of familial short stature.2010 | 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
- SHOX gene polymorphic variants and their association with isolated 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
Loading network view...