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
- Neonatal case reports2020 | Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Early diagnosis of pycnodysostosis in a Czech toddler: a case report2020 | 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
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- The role of genetics in early postnatal care with a focus on VVV2017 | Second Faculty of Medicine
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | Faculty of Science, Second Faculty of Medicine
- Geometric morphometrics of face in patients with cleft palate2022 | Second Faculty of Medicine, Third Faculty of Medicine
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