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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: Ferreira C. R., Rahman S., Keller M., Zschocke J., ICIMD Advisory Group: Jose Abdenur, Houda Ali, Rafael Artuch, Andrea Ballabio, Bruce Barshop, Matthias Baumgartner, Enrico Silvio Bertini, Nenad Blau, Valerio Carelli, Christopher Carroll, Patrick F Chinnery, John Christodoulou, Veronica Cornejo, Niklas Darin, Terry Derks, Daria Diodato, Carlo Dionisi-Vici, John A Duley, Toshi Fukao, Ángeles García-Cazorla, Roberto Giugliani, Amy Goldstein, Georg Hoffmann, Rita Horvath, Isabel Ibarra, Anita Inwood, Jaak Jaeken, Cecilia Jimenez-Mallebrera, Amel Karaa, Thomas Klopstock, Stefan Kölker, Cornelia Kornblum, Viktor Kožich, Costanza Lamperti, Nils-Göran Larsson, Aida Lemes, Barry Lewis, Michelangelo Mancuso, Robert McFarland, Fanny Mochel, Julio Montoya, Eva Morava, Karin Naess, Torayuki Okuyama, Annie Olry, Veronique Paquis-Flucklinger, Sumit Parikh, Marc Patterson, Ceila Pérez de Ferrán, Verena Peters, Holger Prokisch, Ann Saada, Gajja S Salomons, Jean-Marie Saudubray, Maurizio Scarpa, Ulrike Schara-Schmidt, Manuel Schiff, Serenella Servidei, Jan Smeitink, Anu Suomalainen, Trine Tangeraas, Robert W Taylor, Ines Thiele, David Thorburn, Johan Van Hove, Ans T Van der Ploeg, Clara Van Karnebeek, Gepke Visser, Jerry Vockley, Ronald Wanders, Dianne Webster, Anna Wedell, Veronica Wiley, Anna Wredenberg, Massimo Zeviani
المساهمون: C. R., Ferreira, S., Rahman, M., Keller, J., Zschocke, Advisory Group: Jose Abdenur, Icimd, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthia, Silvio Bertini, Enrico, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, F Chinnery, Patrick, Christodoulou, John, Cornejo, Veronica, Darin, Nikla, Derks, Terry, Diodato, Daria, Dionisi-Vici, Carlo, A Duley, John, Fukao, Toshi, García-Cazorla, Ángele, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez-Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thoma, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils-Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, Mcfarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis-Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, S Salomons, Gajja, Saudubray, Jean-Marie, Scarpa, Maurizio, Schara-Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, W Taylor, Robert, Thiele, Ine, Thorburn, David, Van Hove, Johan, T Van der Ploeg, An, Van Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo, University of Zurich, Ferreira C.R., Rahman S., Keller M., Zschocke J., ICIMD Advisory Group, Carelli V.
المصدر: J Inherit Metab Dis
مصطلحات موضوعية: Nosology, medicine.medical_specialty, 2716 Genetics (clinical), Expert advice, 610 Medicine & health, Genetic Condition, Article, ICIMD, 03 medical and health sciences, 1311 Genetics, International Classification of Diseases, Genetics, Humans, Relevance (law), Medicine, ontology, Intensive care medicine, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mechanism (biology), business.industry, 030305 genetics & heredity, inherited metabolic disorder, classification, inherited metabolic disorders, 10036 Medical Clinic, Metabolism, Inborn Error, business, Metabolism, Inborn Errors, Human
وصف الملف: ZORA195359.pdf - application/pdf; STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::930ae4ce9c4dcc3aea4f4c92bbfda714Test
http://hdl.handle.net/11588/854605Test -
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المؤلفون: Ana Rath, Annie Olry, Yann Le Cam, Deborah M. Lambert, Charlotte Rodwell
المصدر: Eur J Hum Genet
مصطلحات موضوعية: business.industry, Correspondence, Genetics, Medicine, business, Humanities, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72daee54884339eed6168019d8e194e6Test
https://doi.org/10.1038/s41431-020-00764-yTest -
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المؤلفون: Kayli Rageth, Cynthia L. Smith, Renske Oegema, Julius O.B. Jacobsen, Xingmin Aaron Zhang, Kathleen E. Sullivan, James P. Balhoff, Ayushi Hegde, David Osumi-Sutherland, Gareth Baynam, Rachel Thompson, Matthew T. Wheeler, Cornelius F. Boerkoel, Hélène Dollfus, Nomi L. Harris, Daniel Durkin, Dorothée Leroux, Joshua D. Milner, Melissa A. Haendel, Annie Olry, Dylan Gratian, Nicolas Matentzoglu, Anna Jansen, David Gómez-Andrés, Zafer Yüksel, Hugh Dawkins, Peter N. Robinson, Ruth C. Lovering, Luigi D. Notarangelo, Michael M. Segal, Maria G. Della Rocca, Sergio Rosenzweig, Julie A. McMurry, Catherine Hajek, Francisco Castellanos, Valentina Cipriani, Willie H. Chang, Sergi Beltran, Ahmed Muaz, Leigh C. Carmody, Marc Hanauer, Jenna R.E. Bergerson, Hanns Lochmüller, Halima Lourghi, Tom Conlin, Charlotte Cunningham-Rundles, James R. Priest, Richard Palmer, Shruti Marwaha, Panagiotis I. Sergouniotis, Amy D. Klion, Alexandra F. Freeman, Morgan Similuk, Michael Brudno, Melody C. Carter, Stanley J. F. Laulederkind, Michael A. Gargano, Susan M. Bello, Tudor Groza, Christopher J. Mungall, Damian Smedley, Hannah Blau, Daniel Danis, Jean-Philippe F. Gourdine, Sebastian Köhler, Murat Sincan, Ana Rath, Nicole Vasilevsky, Andrea L. Storm
المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pediatrics
المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nucleic Acids Research, 47(D1), D1018. Oxford University Press
Nucleic Acids Research
Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, J O B, Danis, D, Gourdine, J P, Gargano, M, Harris, N L, Matentzoglu, N, McMurry, J A, Osumi-Sutherland, D, Cipriani, V, Balhoff, J P, Conlin, T, Blau, H, Baynam, G, Palmer, R, Gratian, D, Dawkins, H, Segal, M, Jansen, A C, Muaz, A, Chang, W H, Bergerson, J, Laulederkind, S J F, Yüksel, Z, Beltran, S, Freeman, A F, Sergouniotis, P I, Durkin, D, Storm, A L, Hanauer, M, Brudno, M, Bello, S M, Sincan, M, Rageth, K, Wheeler, M T, Oegema, R, Lourghi, H, Della Rocca, M G, Thompson, R, Castellanos, F, Priest, J, Cunningham-Rundles, C, Hegde, A, Lovering, R C, Hajek, C, Olry, A, Notarangelo, L & Similuk, M 2019, ' Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources ', Nucleic acids research, vol. 47, no. D1, pp. D1018-D1027 . https://doi.org/10.1093/nar/gky1105Test
Nucleic acids research, vol 47, iss D1
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: Vocabulary, media_common.quotation_subject, Knowledge Bases, Interoperability, Biology, Ontology (information science), Congenital Abnormalities, World Wide Web, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Information and Computing Sciences, Human Phenotype Ontology, Databases, Genetic, Genetics, Database Issue, Humans, Genetic Predisposition to Disease, 030304 developmental biology, media_common, 0303 health sciences, Internet, Whole Genome Sequencing, business.industry, Computational Biology, Genetic Variation, Biological Ontologies, Biological Sciences, 3. Good health, Phenotype, Knowledge base, The Internet, business, Environmental Sciences, 030217 neurology & neurosurgery, Developmental Biology, De facto standard
وصف الملف: application/pdf; image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b257ee3ebfb3ae3e9ecbc4f0bc47edTest
https://ddd.uab.cat/record/223246Test -
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المؤلفون: Michael Brudno, Ana Rath, Alexander X. Lozano, Annie Olry, Tugce B. Balci, Sylvie Maiella, Sarah L. Sawyer, Peter N. Robinson, Brittney Johnstone, Pouria Mashouri, Mia Husić, Willie H. Chang
المصدر: Genetics in Medicine. 22:1427
مصطلحات موضوعية: Information retrieval, Computer science, business.industry, Published Erratum, MEDLINE, Crowdsourcing, business, Phenotype, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eb843727ba26a01b9ff3f6c6b1feff79Test
https://doi.org/10.1038/s41436-020-0866-6Test -
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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 -
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المؤلفون: M de Chalendar, Annie Olry, Ana Rath, S Bee
المصدر: Archives of Disease in Childhood. 99:A14.3-A15
مصطلحات موضوعية: medicine.medical_specialty, Thesaurus (information retrieval), business.industry, media_common.quotation_subject, Temporality, Cognition, Disease, medicine.disease, International Classification of Functioning, Disability and Health, Acquired immunodeficiency syndrome (AIDS), Pediatrics, Perinatology and Child Health, medicine, Temperament, Medical model of disability, Psychiatry, business, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ee74133e8b789e7fb66ce2a6132699d0Test
https://doi.org/10.1136/archdischild-2014-307384.44Test -
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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