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

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

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

المؤلفون: Rachel Thompson, Stanley J. F. Laulederkind, Richard H. Scott, Panagiotis I. Sergouniotis, Ada Hamosh, Mark Engelstad, Hanns Lochmüller, Gareth Baynam, Richard Sever, Roger James, Hugh Dawkins, Laureen E. Connell, C. Turner, Andrew D. Devereau, Susan M. Bello, Michael Brudno, Courtney Hum, Cynthia L. Smith, Julie A. McMurry, Michael M. Segal, Damian Smedley, Gholson J. Lyon, Helen V. Firth, Ingo Helbig, Tom Vulliamy, Roland Krause, Patrick F. Chinnery, Franz Schaefer, Ernest Turro, Melissa A. Haendel, Cornelius F. Boerkoel, Peter N. Robinson, Willem H. Ouwehand, Orion J. Buske, Kym M. Boycott, Volker Straub, Bert B.A. de Vries, Daniel Greene, Valentina Cipriani, Erin D. Foster, Annie Olry, Julius O.B. Jacobsen, Laura E. DeMare, Marijcke W. M. Veltman, Nikolas Pontikos, Andreas Zankl, Tudor Groza, Kathleen Freson, Sebastian Köhler, Ana Rath, Nicole Vasilevsky, Julie von Ziegenweidt, Ségolène Aymé, Soichi Ogishima, Johanna A. Jähn, Jing Yu, Tomasz Zemojtel, Stephan Züchner, Christopher J. Mungall

المصدر: Köhler, S, Vasilevsky, N A, Engelstad, M, Foster, E, McMurry, J, Aymé, S, Baynam, G, Bello, S M, Boerkoel, C F, Boycott, K M, Brudno, M, Buske, O J, Chinnery, P F, Cipriani, V, Connell, L E, Dawkins, H J S, DeMare, L E, Devereau, A D, De Vries, B B A, Firth, H V, Freson, K, Greene, D, Hamosh, A, Helbig, I, Hum, C, Jähn, J A, James, R, Krause, R, Laulederkind, S J F, Lochmüller, H, Lyon, G J, Ogishima, S, Olry, A, Ouwehand, W H, Pontikos, N, Rath, A, Schaefer, F, Scott, R H, Segal, M, Sergouniotis, P I, Sever, R, Smith, C L, Straub, V, Thompson, R, Turner, C, Turro, E, Veltman, M W M, Vulliamy, T, Yu, J, Von Ziegenweidt, J, Zankl, A, Züchner, S, Zemojtel, T, Jacobsen, J O B, Groza, T, Smedley, D, Mungall, C J, Haendel, M & Robinson, P N 2017, ' The Human Phenotype Ontology in 2017 ', Nucleic acids research, vol. 45, no. D1, pp. D865-D876 . https://doi.org/10.1093/nar/gkw1039Test
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1ntTest
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).

مصطلحات موضوعية: 0301 basic medicine, Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Genomics, Translational research, Computational biology, Biology, Ontology (information science), Terminology, Translational Research, Biomedical, 03 medical and health sciences, Rare Diseases, Human Phenotype Ontology, Genetics, Database Issue, Humans, Precision Medicine, Multidisciplinary, general & others [D99] [Human health sciences], Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Computational Biology, Biological Ontologies, Precision medicine, Phenotype, 3. Good health, 030104 developmental biology, Algorithms, Software

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2949ed30b7148e6f5cc842edf930f06fTest
https://doi.org/10.1093/nar/gkw1039Test

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
instname

مصطلحات 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

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

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

المؤلفون: Christel Brou, Frédérique Logeat, Annie Olry, Odile LeBail, Emmanuelle Six, Neetu Gupta-Rossi, Patricia Chastagner, Alain Israël

المساهمون: Biologie Moléculaire de l'Expression Génique, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)

المصدر: The Journal of Cell Biology
Journal of Cell Biology
Journal of Cell Biology, 2004, 166 (1), pp.73-83. ⟨10.1083/jcb.200310098⟩
Journal of Cell Biology, Rockefeller University Press, 2004, 166 (1), pp.73-83. ⟨10.1083/jcb.200310098⟩

مصطلحات موضوعية: MESH: Signal Transduction, Time Factors, MESH: Sequence Homology, Amino Acid, MESH: Microscopy, Fluorescence, MESH: Amino Acid Sequence, Ligands, MESH: Protein Structure, Tertiary, 0302 clinical medicine, Ubiquitin, MESH: Ligands, Monoubiquitination, MESH: Microscopy, Confocal, MESH: Precipitin Tests, Aspartic Acid Endopeptidases, MESH: Animals, MESH: Endopeptidases, Research Articles, Notch, presenilins, endocytosis, ubiquitin, γ-secretase, 0303 health sciences, Microscopy, Confocal, biology, MESH: Immunoblotting, Receptors, Notch, MESH: Presenilin-1, Endocytosis, Cell biology, Ectodomain, MESH: Endocytosis, MESH: Membrane Proteins, MESH: Aspartic Acid Endopeptidases, Signal transduction, Protein Binding, Signal Transduction, MESH: Ubiquitin, Immunoblotting, Molecular Sequence Data, Notch signaling pathway, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Transfection, Presenilin, Article, Cell Line, 03 medical and health sciences, Endopeptidases, Presenilin-1, MESH: Protein Binding, Animals, Humans, MESH: Lysine, Amino Acid Sequence, 030304 developmental biology, MESH: Molecular Sequence Data, MESH: Humans, Sequence Homology, Amino Acid, MESH: Transfection, Lysine, MESH: Time Factors, Membrane Proteins, Cell Biology, Precipitin Tests, MESH: Cell Line, Protein Structure, Tertiary, MESH: Hela Cells, MESH: Amyloid Precursor Protein Secretases, Microscopy, Fluorescence, biology.protein, Amyloid Precursor Protein Secretases, MESH: Receptors, Notch, Amyloid precursor protein secretase, 030217 neurology & neurosurgery, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42bd1832d1eb8b770afd4f43d16a800dTest
http://europepmc.org/articles/PMC2172142Test