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المؤلفون: Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, genetic structures, education, Pharmacology toxicology, lcsh:Medicine, 030105 genetics & heredity, behavioral disciplines and activities, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Humans, Pharmacology (medical), Precision Medicine, Workgroup, Genetics (clinical), Evidence-Based Medicine, lcsh:R, Correction, Computational Biology, Foundation (evidence), General Medicine, eye diseases, humanities, Biological Ontologies, Ontology, Optometry, Psychology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47d594c9d803d1c89f2c935ed1a9bfacTest
https://doi.org/10.1186/s13023-019-1156-8Test -
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المؤلفون: Michael Brudno, Ana Rath, Helen Parkinson, Tudor Groza, Marc Hanauer, Sebastian Köhler, Simon Jupp, Charlotte Rodwell, Dominik Seelow, Halima Lourghi, Sylvie Maiella, Valérie Lanneau, Annie Olry, Peter N. Robinson, Bruno Donadille
المصدر: European journal of medical genetics. 61(11)
مصطلحات موضوعية: 0301 basic medicine, Databases, Factual, Interoperability, Computational Biology, Biological Ontologies, General Medicine, Ontology (information science), Data science, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Resource (project management), Phenomics, Phenotype, Rare Diseases, Controlled vocabulary, Human Phenotype Ontology, Genetics, Humans, Exome, 030217 neurology & neurosurgery, Genetics (clinical), Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2dc2a69fbea71a1ff99ef711eb99e86Test
https://pubmed.ncbi.nlm.nih.gov/29425702Test -
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المؤلفون: Bertrand Bellet, Ana Rath, Catherine Gonthier, Annie Olry, Ségolène Aymé
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: Medicine(all), SNOMED CT, Medical terminology, business.industry, Interoperability, Library science, ICD-10, General Medicine, Health informatics, Systematized Nomenclature of Medicine, Political science, Health care, Oral Presentation, Genetics(clinical), Pharmacology (medical), business, Genetics (clinical), Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1442f72567ee8b5061fde212290c4deTest
https://doi.org/10.1186/1750-1172-9-s1-o11Test