Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome.
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| Title: | Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome. |
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| Authors: | Faviez, Carole1,2 (AUTHOR) carole.faviez@inserm.fr, Wang, Xiaomeng1,2 (AUTHOR), Vincent, Marc1,3 (AUTHOR), Garcelon, Nicolas1,3 (AUTHOR), Saunier, Sophie4 (AUTHOR), Cormier-Daire, Valérie5 (AUTHOR), Chen, Xiaoyi1,3,6 (AUTHOR), Burgun, Anita1,2,7 (AUTHOR) |
| Source: | International Journal of Medical Informatics. Nov2025, Vol. 203, pN.PAG-N.PAG. 1p. |
| Database: | Engineering Source |
| ISSN: | 13865056 |
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| DOI: | 10.1016/j.ijmedinf.2025.106021 |
