Publications
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | Second Faculty of Medicine
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | Second Faculty of Medicine, First Faculty of Medicine
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | Faculty of Science, Second Faculty of Medicine
- Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant2022 | Second Faculty of Medicine
- 3D facial morphometry in patients with oculo-auriculo-vertebral spectrum2019 | Second Faculty of Medicine, Third Faculty of Medicine
- Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative2019 | Second Faculty of Medicine
- Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt2018 | Faculty of Science, Faculty of Mathematics and Physics, Second Faculty of Medicine
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | Second Faculty of Medicine
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- An inherited 2q13 deletion in a patient with Marfan syndromePublication without faculty affiliation
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