المؤلفون: Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélèneashworth, Jl, Audo, I, Balciuniene, Vj, Banin, E, Black, Gc, Böhringer, D, Boon, Cjf, Bremond-Gignac, D, Calvas, P, Castela, G, Dagnelie, G, Dollfus, H, Downes, Sm, Fasolo, A, Fasser, C, Gelzinis, A, Goetz, K, Hamann, S, Héon, E, Iarossi, G, Kawasaki, A, Keegan, D, Kessel, L, Khan, K, Klett, A, Köhler, S, Leroux, D, Leroy, Bp, Lisch, W, Liskova, P, Lorenz, B, Maggi, R, Maxime, E, Meunier, I, Mohand-Said, S, Nowomiejska, K, Perdomo, Y, Petzold, A, Preising, M, Robinson, Pn, Scholl, Hpn, Sergouniotis, Pi, Sodi, A, Stingl, K, Studer, F, Suppiej, A, Thompson, R, Touitou, V, Traboulsi, E, Trumpaitis, J, Tuft, Sj, Vaclavik, V, Valeina, S, Van Cauwenbergh, C, Verloes, A, Vighetto, A, Wheeler, R, Wheeler-Schilling, T, Yu-Wai-Man, P, Zobor, D, Zrenner, E.

المساهمون: Sergouniotis, Panagiotis I [0000-0003-0986-4123], Apollo - University of Cambridge Repository, University of Manchester [Manchester], Plateforme d'information et de services pour les maladies rares et les médicaments orphelins (Orphanet), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Broussais-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Newcastle University [Newcastle], The Jackson Laboratory for Genomic Medicine, Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), European Project: 0305444(2003)

المصدر: ERN-EYE Ontology Study Group 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 8 . https://doi.org/10.1186/s13023-018-0980-6
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14
Orphanet Journal of Rare Diseases, 2019, 14 (8), pp.1-5. ⟨10.1186/s13023-018-0980-6⟩
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Sergouniotis, P I, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, P N, Dollfus, H, ERN-EYE Ontology Study Group, Ashworth, J L, Audo, I, Balciuniene, V J, Hamann, S, Kessel, L, Yu-Wai-Man, P, Zobor, D & Zrenner, E 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, 8 . https://doi.org/10.1186/s13023-018-0980-6

مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, Computer science, Evidence-based precision medicine, Rare eye disease, Human phenotype ontology, Orphanet rare disease ontology, lcsh:Medicine, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, 030105 genetics & heredity, Ontology (information science), Terminology, NO, Open Biomedical Ontologies, MESH: Eye Diseases / classificationHumans Precision Medicine / methods* Rare Diseases / classification, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Human Phenotype Ontology, Eye Diseases/classification, Humans, Pharmacology (medical), Precision Medicine, Letter to the Editor, MESH: Humans Precision Medicine / methods, Genetics (clinical), Information exchange, Evidence-Based Medicine, Orphanet rare disease ontology, Rare Diseases/classification, MESH: Computational Biology / methods, lcsh:R, Computational Biology, Human phenotype ontology, Biological Ontologies, Precision Medicine/methods, General Medicine, Evidence-based medicine, Rare eye disease, Computational Biology/methods, Data science, MESH: Rare Diseases / classification, 3. Good health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Evidence-based precision medicine, Eye disorder, MESH: Biological Ontologies, MESH: Evidence-Based Medicine, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840fa6905fa94a0e7ca88a0762068559
https://doi.org/10.1186/s13023-018-0980-6

المؤلفون: Schrader, S, Tuft, SJ, Beaconsfield, M, Daniels, JT, Geerling, G

المصدر: 174. Versammlung des Vereins Rheinisch-Westfälischer Augenärzte; 20120127-20120128; Essen; DOC12rwa05 /20120126/

مصطلحات موضوعية: ddc: 610, 610 Medical sciences, Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b2bb0dd24aa6a18648199c178311f8f

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