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, 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

المؤلفون: Gareth, Baynam, Faye, Bowman, Karla, Lister, Caroline E, Walker, Nicholas, Pachter, Jack, Goldblatt, Kym M, Boycott, William A, Gahl, Kenjiro, Kosaki, Takeya, Adachi, Ken, Ishii, Trinity, Mahede, Fiona, McKenzie, Sharron, Townshend, Jennie, Slee, Cathy, Kiraly-Borri, Anand, Vasudevan, Anne, Hawkins, Stephanie, Broley, Lyn, Schofield, Hedwig, Verhoef, Tudor, Groza, Andreas, Zankl, Peter N, Robinson, Melissa, Haendel, Michael, Brudno, John S, Mattick, Marcel E, Dinger, Tony, Roscioli, Mark J, Cowley, Annie, Olry, Marc, Hanauer, Fowzan S, Alkuraya, Domenica, Taruscio, Manuel, Posada de la Paz, Hanns, Lochmüller, Kate, Bushby, Rachel, Thompson, Victoria, Hedley, Paul, Lasko, Kym, Mina, John, Beilby, Cynthia, Tifft, Mark, Davis, Nigel G, Laing, Daria, Julkowska, Yann, Le Cam, Sharon F, Terry, Petra, Kaufmann, Iiro, Eerola, Irene, Norstedt, Ana, Rath, Makoto, Suematsu, Stephen C, Groft, Christopher P, Austin, Ruxandra, Draghia-Akli, Tarun S, Weeramanthri, Caron, Molster, Hugh J S, Dawkins

المصدر: Advances in experimental medicine and biology. 1031

مصطلحات موضوعية: Phenotype, Rare Diseases, Predictive Value of Tests, Health Policy, Humans, Genetic Predisposition to Disease, Genomics, Public Health, Precision Medicine, Program Development, Policy Making, Prognosis, Program Evaluation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d338f975167a87d113f2dada5e5e51f9Test
https://pubmed.ncbi.nlm.nih.gov/29214566Test

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, Patricia Chastagner, Annie Olry, Alain Israël

المصدر: Journal of Biological Chemistry. 280:28564-28571

مصطلحات موضوعية: Genetic Vectors, Notch signaling pathway, Nicastrin, Polymerase Chain Reaction, Biochemistry, Presenilin, Cell Line, Amyloid beta-Protein Precursor, Endopeptidases, Amyloid precursor protein, Animals, Aspartic Acid Endopeptidases, Humans, Amino Acid Sequence, Cloning, Molecular, APH-1, Molecular Biology, Integral membrane protein, DNA Primers, Base Sequence, Receptors, Notch, biology, Membrane Proteins, Cell Biology, Molecular biology, Recombinant Proteins, Transmembrane protein, Rats, Kinetics, Ectodomain, Mutagenesis, biology.protein, Amyloid Precursor Protein Secretases, Protein Processing, Post-Translational

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd4c3aa12d19501171fbed8bfcdefe0Test
https://doi.org/10.1074/jbc.m502199200Test

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

المؤلفون: Ferdinand Dhombres, Pierre-Yves Vandenbussche, Ana Rath, Marc Hanaeur, Annie Olry, Bruno Urbero, Rémy Choquet, Jean Charlet

المساهمون: Laboratoire de Santé Publique et Informatique Médicale ( SPIM ), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Orphanet - Plateforme maladies rares, Université Pierre et Marie Curie - Paris 6 ( UPMC ), Service de Gynécologie-Obstétrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Mondeca, Direction des services informatiques ( DSI ), Laboratoire de Santé Publique et Informatique Médicale (SPIM), Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Direction des services informatiques (DSI), Mille, Alain, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Actes de IC2011
IC 2011, 22èmes Journées francophones d'Ingénierie des Connaissances
IC 2011, 22èmes Journées francophones d'Ingénierie des Connaissances, May 2012, Chambéry, France. pp.573-588, 2012
HAL
IC 2011, 22èmes Journées francophones d'Ingénierie des Connaissances, May 2012, Chambéry, France. pp.573-588

مصطلحات موضوعية: [INFO.INFO-WB] Computer Science [cs]/Web, [SHS.INFO]Humanities and Social Sciences/Library and information sciences, [INFO.INFO-WB]Computer Science [cs]/Web, [ INFO.INFO-WB ] Computer Science [cs]/Web, [ SHS.INFO ] Humanities and Social Sciences/Library and information sciences, [SHS.INFO] Humanities and Social Sciences/Library and information sciences

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09b78643982e7b99bb71b54872e0516fTest
https://hal.archives-ouvertes.fr/hal-00746725/documentTest

المؤلفون: Bruno Urbero, Ferdinand Dhombres, Ana Rath, Ségolène Aymé, Maja Miličić Brandt, Annie Olry

المصدر: Human mutation. 33(5)

مصطلحات موضوعية: SNOMED CT, Databases, Factual, Relational database, Information Dissemination, Unified Medical Language System, Semantic interoperability, Ontology (information science), Biology, Online Systems, Terminology, World Wide Web, Orphan drug, Rare Diseases, Terminology as Topic, Genetics, Information system, Humans, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50105e8a414750301a910ffe33139dcTest
https://pubmed.ncbi.nlm.nih.gov/22422702Test