Publikace
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint2021 | 2. lékařská fakulta
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | 2. lékařská fakulta
- Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative2019 | 2. lékařská fakulta
- Health-economic aspects of cystic fibrosis screening and therapy2014 | 2. lékařská fakulta
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | 2. lékařská fakulta
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | 2. lékařská fakulta, Přírodovědecká fakulta
- Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant2022 | 2. lékařská fakulta
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases2021 | 2. lékařská fakulta
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
- Kazuistiky z neonatologie2020 | 2. lékařská fakulta, Lékařská fakulta v Hradci Králové
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