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From Concept Representations to Ontologies: A Paradigm Shift in Health Informatics?

Schulz S, Balkanyi L, Cornet R, Bodenreider O

OBJECTIVES: This work aims at uncovering challenges in biomedical knowledge representation research by providing an understanding of what was historically called "medical concept representation" and used as the name for...
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Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy

Disha K, Schulz S, Breuer M, Owais T, Girdauskas E, Kuntze T

Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with...
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