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المؤلفون: Tugce B. Balci, Michael Brudno, Willie H. Chang, Annie Olry, Peter N. Robinson, Sylvie Maiella, Brittney Johnstone, Mia Husić, Sarah L. Sawyer, Pouria Mashouri, Alexander X. Lozano, Ana Rath
المصدر: Genetics in Medicine. 22:1391-1400
مصطلحات موضوعية: 0301 basic medicine, Information retrieval, business.industry, Computer science, Gold standard (test), 030105 genetics & heredity, Crowdsourcing, 03 medical and health sciences, Annotation, Identification (information), 030104 developmental biology, Documentation, Knowledge base, Similarity (psychology), Web application, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fd91cdfd0cb1dfa117fbd8d0ffcc4347Test
https://doi.org/10.1038/s41436-020-0812-7Test -
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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, Victoria Hedley, Anne Hawkins, Anand Vasudevan, Cynthia J. Tifft, Ruxandra Draghia-Akli, Christopher P. Austin, Stephen C. Groft, Paul Lasko, Nigel G. Laing, Hedwig Verhoef, Iiro Eerola, Tudor Groza, Cathy Kiraly-Borri, Lyn Schofield, Melissa A. Haendel, Trinity Mahede, John S. Mattick, Stephanie Broley, Hugh Dawkins, Rachel Thompson, Yann Le Cam, Jack Goldblatt, Peter N. Robinson, Kate Bushby, Nicholas Pachter, Kenjiro Kosaki, Caroline E. Walker, Daria Julkowska, Gareth Baynam, Domenica Taruscio, Hanns Lochmüller, Marcel E. Dinger, Manuel Posada de la Paz, Caron Molster, Annie Olry, William A. Gahl, Jennie Slee, Sharron Townshend, Andreas Zankl, Fowzan S. Alkuraya, Fiona Haslam McKenzie, Faye L. Bowman, Makoto Suematsu, Tarun Weeramanthri, Ken Ishii, Takeya Adachi, Petra Kaufmann, Kym M. Boycott, Mark M. Davis, Kym Mina, Karla J. Lister, John Beilby, Irene Norstedt, Marc Hanauer, Tony Roscioli, Ana Rath, Mark J. Cowley, Sharon F. Terry
المصدر: Advances in Experimental Medicine and Biology ISBN: 9783319671420
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Public health, Disease, 030105 genetics & heredity, Public relations, Gene mutation, Disadvantaged, 03 medical and health sciences, Underserved Population, Epidemiology, medicine, Business, Health policy, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc69c63b74f6c84288a5ae96442e6df7Test
https://doi.org/10.1007/978-3-319-67144-4_4Test