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Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases.

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Title: Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases.
Authors: Sendtner GW; Clinic of Internal Medicine III, Department of Oncology, Hematology, Rheumatology and Clinical Immunology, University Hospital Bonn, Venusberg Campus 1, 53127, Bonn, Germany. Georg.sendtner@ukbonn.de., Muecke M; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany., Grigull L; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany., Bender T; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany., Behning C; Institute of Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn, Germany., Schäfer VS; Clinic of Internal Medicine III, Department of Oncology, Hematology, Rheumatology and Clinical Immunology, University Hospital Bonn, Venusberg Campus 1, 53127, Bonn, Germany.; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 05; Vol. 20 (1), pp. 564. Date of Electronic Publication: 2025 Nov 05.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Sendtner+GW%22">Sendtner GW</searchLink>; Clinic of Internal Medicine III, Department of Oncology, Hematology, Rheumatology and Clinical Immunology, University Hospital Bonn, Venusberg Campus 1, 53127, Bonn, Germany. Georg.sendtner@ukbonn.de.<br /><searchLink fieldCode="AU" term="%22Muecke+M%22">Muecke M</searchLink>; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Grigull+L%22">Grigull L</searchLink>; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Bender+T%22">Bender T</searchLink>; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Behning+C%22">Behning C</searchLink>; Institute of Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Schäfer+VS%22">Schäfer VS</searchLink>; Clinic of Internal Medicine III, Department of Oncology, Hematology, Rheumatology and Clinical Immunology, University Hospital Bonn, Venusberg Campus 1, 53127, Bonn, Germany.; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2025 Nov 05; Vol. 20 (1), pp. 564. <i>Date of Electronic Publication: </i>2025 Nov 05.
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