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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.
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
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  Availability: 0
Header DbId: egs
DbLabel: Engineering Source
An: 187069189
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Faviez%2C+Carole%22">Faviez, Carole</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> carole.faviez@inserm.fr</i><br /><searchLink fieldCode="AR" term="%22Wang%2C+Xiaomeng%22">Wang, Xiaomeng</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vincent%2C+Marc%22">Vincent, Marc</searchLink><relatesTo>1,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Garcelon%2C+Nicolas%22">Garcelon, Nicolas</searchLink><relatesTo>1,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Saunier%2C+Sophie%22">Saunier, Sophie</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cormier-Daire%2C+Valérie%22">Cormier-Daire, Valérie</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chen%2C+Xiaoyi%22">Chen, Xiaoyi</searchLink><relatesTo>1,3,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Burgun%2C+Anita%22">Burgun, Anita</searchLink><relatesTo>1,2,7</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Medical+Informatics%22">International Journal of Medical Informatics</searchLink>. Nov2025, Vol. 203, pN.PAG-N.PAG. 1p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=egs&AN=187069189
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1016/j.ijmedinf.2025.106021
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      – Code: eng
        Text: English
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        StartPage: N.PAG
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      – TitleFull: Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome.
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            NameFull: Faviez, Carole
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            NameFull: Wang, Xiaomeng
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            NameFull: Vincent, Marc
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            NameFull: Saunier, Sophie
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            NameFull: Cormier-Daire, Valérie
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            – D: 01
              M: 11
              Text: Nov2025
              Type: published
              Y: 2025
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              Value: 203
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            – TitleFull: International Journal of Medical Informatics
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