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1دورية أكاديمية
المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value
العلاقة: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test
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المؤلفون: Damian Smedley, Melissa A. Haendel, Leigh C. Carmody, Michael A. Gargano, Guy Karlebach, Julie A. McMurry, Courtney Thaxton, Peter N. Robinson, Justin T. Reese, Manuel Holtgrewe, Daniel Danis, Unc Biocuration Core, Xingmin Aaron Zhang, Julius O.B. Jacobsen, Sebastian Köhler, Vida Ravanmehr
المصدر: Am J Hum Genet
مصطلحات موضوعية: Computer science, Disease, Computational biology, Article, 03 medical and health sciences, symbols.namesake, Rare Diseases, Databases, Genetic, Human Phenotype Ontology, Genetics, Humans, Exome, Medical diagnosis, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Rank (computer programming), Computational Biology, Genomics, Phenotype, Ranking, Likelihood-ratio test, Mendelian inheritance, symbols, Algorithms, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a41f03ad9a1789689b6277c3dbc3bbTest
https://doi.org/10.1016/j.ajhg.2020.06.021Test -
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المؤلفون: Leslie Matalonga, Julius O.B. Jacobsen, Claus Weiland, Robin Steinhaus, Gareth Baynam, Michael Baudis, Nicole Vasilevsky, Mélanie Courtot, Damian Smedley, Kent Lloyd, Nomi L. Harris, Núria Queralt-Rosinach, Jacques S. Beckmann, Aly Khalifa, Jagadish Chandrabose Sundaramurthi, Nikolas Pontikos, Anastasios Siapos, Tudor Groza, Peter Krawitz, Daniel Danis, Sylvia Thun, Sebastian Koehler, Tiffany J. Callahan, Christopher J. Mungall, Lindsay Smith, Sergi Beltran, Monica C. Munoz-Torres, Robert R. Freimuth, Melissa Haendel, Marco Roos, Davide Piscia, Ada Hamosh, Christopher G. Chute, Anastasios Papakonstantinou, Alejandro Metke-Jimenez, Heikki Lehvaeslaiho, Jeremy L. Warner, Julie A. McMurry, Alex H. Wagner, Michael A. Gargano, Emilia M. Swietlik, Brian J Laraway, Paul N. Schofield, Peter N. Robinson, Rajaram Kaliyaperumal, Olivier Elemento, Soichi Ogishima
مصطلحات موضوعية: Schema (genetic algorithms), ComputingMethodologies_PATTERNRECOGNITION, Computer science, business.industry, Representation (systemics), Translational research, Genomics, Disease, Personalized medicine, Precision medicine, business, Data science, Biobank
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fd4b2185624a9445f4ed13fb97ea1593Test
https://doi.org/10.1101/2021.11.27.21266944Test -
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المؤلفون: Daniel Danis, Peter N. Robinson, Melissa A. Haendel, Michael A. Gargano, Julie A. McMurry, Damian Smedley, Leigh C. Carmody, Ayushi Hegde, Giorgio Valentini, Julius O.B. Jacobsen
المصدر: The American Journal of Human Genetics
Am J Hum Genetمصطلحات موضوعية: Prioritization, Computer science, RNA Splicing, Computational biology, Biology, Genome, Article, DNA sequencing, Exon, Exome Sequencing, Genetics, Cryptic Splice Sites, Humans, Exome, splice, Nucleotide, Data Curation, Genetics (clinical), Exome sequencing, chemistry.chemical_classification, Base Sequence, Alternative splicing, Genetic Diseases, Inborn, Wild type, Intron, Computational Biology, High-Throughput Nucleotide Sequencing, Correction, Exons, Introns, Human genetics, Sequence logo, chemistry, Regulatory sequence, Mutation, RNA splicing, RNA Splice Sites, Algorithms, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d35fedc6b7b0f5339a99e08b8ea07057Test
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المؤلفون: Christopher J. Mungall, Matthias Haimel, Fabian Hauck, Marc Hanauer, Nicolas Matentzoglu, Ganna Balagura, Ingo Helbig, Julie A. McMurry, Avi Z. Rosenberg, Amy Brower, Johanna L. Est, Julia Pazmandi, Maximilian Hastreiter, Melissa A. Haendel, Peter D. Galer, Nomi L. Harris, Gerhard Kindle, Michael Hartnett, Daniel Danis, Hugh Kearney, Shiva Ganesan, Yongqun He, Michael A. Gargano, Rebecca L. Peters, Matthias Griese, Roland Krause, Damian Smedley, Shahmir A. Rind, Katrin Knoflach, Tim Jeske, Gareth Baynam, Peter N. Robinson, Michael M. Segal, Leigh C. Carmody, David Lagorce, Monica Munoz-Torres, Christopher G. Chute, Christoph Klein, Zafer Yüksel, Jillian A. Miller, Tomer Talmy, Christina K Rapp, Julie Xian, Tiffany J. Callahan, Samuel A. Wiafe, David Lewis-Smith, Ana Rath, Nicole Vasilevsky, Yarlalu Thomas, Markus G. Seidel, Sebastian Köhler
المصدر: Nucleic Acids Research, 2021, Vol. 49
Nucleic Acids Researchمصطلحات موضوعية: endocrine system, Databases, Factual, Genotype, AcademicSubjects/SCI00010, International Cooperation, Biology, 03 medical and health sciences, 0302 clinical medicine, Human disease, Neonatal Screening, Electronic health record, Terminology as Topic, Human Phenotype Ontology, Genetics, Database Issue, Animals, Humans, Disease, 030304 developmental biology, 0303 health sciences, Internet, Genome, Extramural, fungi, Infant, Newborn, Computational Biology, Biological Ontologies, equipment and supplies, Data science, body regions, Disease Models, Animal, Phenotype, Pharmacogenetics, Clinical validity, International league against epilepsy, 030217 neurology & neurosurgery, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bf63733a75073d0317ef693d3429b7cTest
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المؤلفون: Melissa A. Haendel, Sebastian Köhler, Xingmin Aaron Zhang, Michael A. Gargano, Julius O.B. Jacobsen, Courtney Thaxton, Manuel Holtgrewe, Vida Ravanmehr, Damian Smedley, Julie A. McMurry, Justin T. Reese, Peter N. Robinson, Unc Biocuration Core, Daniel Danis, Leigh C. Carmody
مصطلحات موضوعية: Prioritization, 0303 health sciences, Clinical genomics, Computer science, Rank (computer programming), Computational biology, Disease, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Ranking, Human Phenotype Ontology, Mendelian inheritance, symbols, Medical diagnosis, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f38b39ad794f6823fa72a01df2f3896Test
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7دورية أكاديمية
المؤلفون: Michael L Gargano, Lorraine Lurie
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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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: Johannes T. Roehr, Peter N. Robinson, Peter Hansen, Michael A. Gargano, Guy Karlebach, Jonas Ibn-Salem, Jochen Hecht
المصدر: Genes, Vol 10, Iss 7, p 548 (2019)
Genesمصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, media_common.quotation_subject, Context (language use), Review, Computational biology, Biology, Processing, Genome, Capture Hi-C, 03 medical and health sciences, 0302 clinical medicine, Hi-C, Databases, Genetic, Genetics, Transcriptional regulation, Humans, Quality (business), Enhancer, Control (linguistics), Genetics (clinical), media_common, Chromosome Mapping, Computational Biology, High-Throughput Nucleotide Sequencing, Quality control, Genomics, Chromatin, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adbcb6ddc1386873ab2b2877a597e4adTest
http://hdl.handle.net/10230/42350Test -
10دورية أكاديمية
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf