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MUDr. Marek Turnovec
External academic staff at Second Faculty of Medicine
15 publications
Publications
publication
The Human Phenotype Ontology in 2024: phenotypes around the world
2024 |
Second Faculty of Medicine
publication
Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models
2023 |
Second Faculty of Medicine, Faculty of Science
publication
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant
2022 |
Second Faculty of Medicine
publication
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 |
Second Faculty of Medicine
publication
Solving unsolved rare neurological diseases-a Solve-RD viewpoint
2021 |
Second Faculty of Medicine
publication
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
2021 |
Second Faculty of Medicine
publication
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Neonatal case reports
2020 |
Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
2019 |
Second Faculty of Medicine
publication
Novorozenec s atypickým vývojem genitálu a hypertenzí
2019 |
Second Faculty of Medicine
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