Classes
Publications
- We have a daughter or not? Androgen insensivity syndrome2014 | 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
- Cleft Lip and Palate - Prenatal Diagnosis and Counselling1998 | First Faculty of Medicine, Central Library of Charles University
- Brachytelephalangic Chondrodysplasia Punctata With Distinctive Phenotype and Normal Karyotype.1998 | Faculty of Physical Education and Sport
- 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
- Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene2020 | First Faculty of Medicine
- Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene2019 | First Faculty of Medicine
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