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Interoperable Integration of a National Rare Disease Registry Into a Rare Eye Disease Data Warehouse: Implementation Study.

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Title: Interoperable Integration of a National Rare Disease Registry Into a Rare Eye Disease Data Warehouse: Implementation Study.
Authors: Beluffi Marin C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, 1 rue Eugène Boeckel, Strasbourg, 67000, France, 33 03 68 85 36 60., Oswald M; FSMR SENSGENE, Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Ratenet L; FSMR SENSGENE, Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Stoll M; FSMR SENSGENE, Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Chennen K; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, 1 rue Eugène Boeckel, Strasbourg, 67000, France, 33 03 68 85 36 60., Dollfus H; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, 1 rue Eugène Boeckel, Strasbourg, 67000, France, 33 03 68 85 36 60.; FSMR SENSGENE, Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), ERN-EYE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Source: JMIR medical informatics [JMIR Med Inform] 2026 May 26; Vol. 14, pp. e79378. Date of Electronic Publication: 2026 May 26.
Publication Type: Journal Article
Journal Info: Publisher: JMIR Publications Country of Publication: Canada NLM ID: 101645109 Publication Model: Electronic Cited Medium: Internet ISSN: 2291-9694 (Electronic) Linking ISSN: 22919694 NLM ISO Abbreviation: JMIR Med Inform Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Beluffi+Marin+C%22">Beluffi Marin C</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, 1 rue Eugène Boeckel, Strasbourg, 67000, France, 33 03 68 85 36 60.<br /><searchLink fieldCode="AU" term="%22Oswald+M%22">Oswald M</searchLink>; FSMR SENSGENE, Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Ratenet+L%22">Ratenet L</searchLink>; FSMR SENSGENE, Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Stoll+M%22">Stoll M</searchLink>; FSMR SENSGENE, Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Chennen+K%22">Chennen K</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, 1 rue Eugène Boeckel, Strasbourg, 67000, France, 33 03 68 85 36 60.<br /><searchLink fieldCode="AU" term="%22Dollfus+H%22">Dollfus H</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, 1 rue Eugène Boeckel, Strasbourg, 67000, France, 33 03 68 85 36 60.; FSMR SENSGENE, Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), ERN-EYE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
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