Classes
Publications
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, 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
- Relationship between Genotype and Phenotype in Patients with Microdeletion of Chromosome 22q112001 | First Faculty of Medicine, Second Faculty of Medicine, 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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