المؤلفون: Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter N Robinson

المصدر: PLoS ONE, Vol 18, Iss 5, p e0285433 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/82b7a50d7c6748b381f7924aa14f9c23

المؤلفون: Guy Karlebach, Peter Hansen, Diogo FT Veiga, Robin Steinhaus, Daniel Danis, Sheng Li, Olga Anczukow, Peter N Robinson

المصدر: Genome Biology, Vol 21, Iss 1, Pp 1-20 (2020)

مصطلحات موضوعية: Differential expression, Alternative splicing, Transcription, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13059-020-02072-6; https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/0007505bb5ac496f9757719472ccbfeb

المؤلفون: Rachel R Deer, Madeline A Rock, Nicole Vasilevsky, Leigh Carmody, Halie Rando, Alfred J Anzalone, Marc D Basson, Tellen D Bennett, Timothy Bergquist, Eilis A Boudreau, Carolyn T Bramante, James Brian Byrd, Tiffany J Callahan, Lauren E Chan, Haitao Chu, Christopher G Chute, Ben D Coleman, Hannah E Davis, Joel Gagnier, Casey S Greene, William B Hillegass, Ramakanth Kavuluru, Wesley D Kimble, Farrukh M Koraishy, Sebastian Köhler, Chen Liang, Feifan Liu, Hongfang Liu, Vithal Madhira, Charisse R Madlock-Brown, Nicolas Matentzoglu, Diego R Mazzotti, Julie A McMurry, Douglas S McNair, Richard A Moffitt, Teshamae S Monteith, Ann M Parker, Mallory A Perry, Emily Pfaff, Justin T Reese, Joel Saltz, Robert A Schuff, Anthony E Solomonides, Julian Solway, Heidi Spratt, Gary S Stein, Anupam A Sule, Umit Topaloglu, George D. Vavougios, Liwei Wang, Melissa A Haendel, Peter N Robinson

المصدر: EBioMedicine, Vol 74, Iss , Pp 103722- (2021)

مصطلحات موضوعية: COVID-19, of post-acute sequelae of SARS-CoV-2, human phenotype ontology, long COVID, phenotyping, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396421005168; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/fe1331dbae5d42cf84b4cae03d8faaf5

المؤلفون: Conner Jenkins, Troy Jenkins, Thomas N Person, Peter N Robinson, Alanna Kulchak Rahm, Nephi A Walton, Lynn K Feldman, Joeseph Peterson, Jonathon C Reynolds, Makenzie A Woltz, Marc S Williams, Michael M Segal

المصدر: BMJ Health & Care Informatics, Vol 28, Iss 1 (2021)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://informatics.bmj.com/content/28/1/e100331.full; https://doaj.org/toc/2632-1009

URL الوصول: https://doaj.org/article/6f81dbb812864747af76481cc3b38917

المؤلفون: Petra Gehle, Barbara Goergen, Daniel Pilger, Peter Ruokonen, Peter N Robinson, Daniel J Salchow

المصدر: PLoS ONE, Vol 12, Iss 9, p e0183370 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5607136?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/8f92de66fadf43c3a10716404c7e55dc

المؤلفون: Ivana Jerković, Daniel M Ibrahim, Guillaume Andrey, Stefan Haas, Peter Hansen, Catrin Janetzki, Irene González Navarrete, Peter N Robinson, Jochen Hecht, Stefan Mundlos

المصدر: PLoS Genetics, Vol 13, Iss 1, p e1006567 (2017)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5289628?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/e8324d305f6947cd9b32c89f8da57fc4

المؤلفون: Andrew R Deans, Suzanna E Lewis, Eva Huala, Salvatore S Anzaldo, Michael Ashburner, James P Balhoff, David C Blackburn, Judith A Blake, J Gordon Burleigh, Bruno Chanet, Laurel D Cooper, Mélanie Courtot, Sándor Csösz, Hong Cui, Wasila Dahdul, Sandip Das, T Alexander Dececchi, Agnes Dettai, Rui Diogo, Robert E Druzinsky, Michel Dumontier, Nico M Franz, Frank Friedrich, George V Gkoutos, Melissa Haendel, Luke J Harmon, Terry F Hayamizu, Yongqun He, Heather M Hines, Nizar Ibrahim, Laura M Jackson, Pankaj Jaiswal, Christina James-Zorn, Sebastian Köhler, Guillaume Lecointre, Hilmar Lapp, Carolyn J Lawrence, Nicolas Le Novère, John G Lundberg, James Macklin, Austin R Mast, Peter E Midford, István Mikó, Christopher J Mungall, Anika Oellrich, David Osumi-Sutherland, Helen Parkinson, Martín J Ramírez, Stefan Richter, Peter N Robinson, Alan Ruttenberg, Katja S Schulz, Erik Segerdell, Katja C Seltmann, Michael J Sharkey, Aaron D Smith, Barry Smith, Chelsea D Specht, R Burke Squires, Robert W Thacker, Anne Thessen, Jose Fernandez-Triana, Mauno Vihinen, Peter D Vize, Lars Vogt, Christine E Wall, Ramona L Walls, Monte Westerfeld, Robert A Wharton, Christian S Wirkner, James B Woolley, Matthew J Yoder, Aaron M Zorn, Paula Mabee

المصدر: PLoS Biology, Vol 13, Iss 1, p e1002033 (2015)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/c6769cb8ebf0434ea3c4cd1a41ec45d2

المؤلفون: Martin A Mensah, Matthew S Hestand, Maarten H D Larmuseau, Mala Isrie, Nancy Vanderheyden, Matthias Declercq, Erika L Souche, Jeroen Van Houdt, Radka Stoeva, Hilde Van Esch, Koen Devriendt, Thierry Voet, Ronny Decorte, Peter N Robinson, Joris R Vermeesch

المصدر: PLoS Genetics, Vol 10, Iss 11, p e1004578 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4222609?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/de85e65b0c234ee2b103bf01d706350c

المؤلفون: Peter N Robinson, Caleb Webber

المصدر: PLoS Genetics, Vol 10, Iss 4, p e1004268 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24699242/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/28178537cd08427aad553267a39e2b8d

المؤلفون: Sebastian Köhler, Sandra C Doelken, Barbara J Ruef, Sebastian Bauer, Nicole Washington, Monte Westerfield, George Gkoutos, Paul Schofield, Damian Smedley, Suzanna E Lewis, Peter N Robinson, Christopher J Mungall

المصدر: F1000Research, Vol 2 (2014)

مصطلحات موضوعية: Bioinformatics, Medicine, Science

وصف الملف: electronic resource

Relation: http://f1000research.com/articles/2-30/v2; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/f3eaaec9066b477db2c3c764ab08ac21

المؤلفون: Sebastian Köhler, Sandra C Doelken, Barbara J Ruef, Sebastian Bauer, Nicole Washington, Monte Westerfield, George Gkoutos, Paul Schofield, Damian Smedley, Suzanna E Lewis, Peter N Robinson, Christopher J Mungall

المصدر: F1000Research, Vol 2 (2013)

مصطلحات موضوعية: Bioinformatics, Medicine, Science

وصف الملف: electronic resource

Relation: http://f1000research.com/articles/2-30/v1; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/ab454c6c75f74fada9740e268ac3b15c

المؤلفون: Tom Kamphans, Peggy Sabri, Na Zhu, Verena Heinrich, Stefan Mundlos, Peter N Robinson, Dmitri Parkhomchuk, Peter M Krawitz

المصدر: PLoS ONE, Vol 8, Iss 8, p e70151 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3734130?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/ae0ab914746f4a45b1382d3c1ece434c

المؤلفون: Ali Aydin, Baran A Adsay, Sara Sheikhzadeh, Britta Keyser, Meike Rybczynski, Claudia Sondermann, Christian Detter, Daniel Steven, Peter N Robinson, Jürgen Berger, Jörg Schmidtke, Stefan Blankenberg, Stephan Willems, Yskert von Kodolitsch, Boris A Hoffmann

المصدر: PLoS ONE, Vol 8, Iss 12, p e81281 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24349050/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/3d79b92abb9949589a02f506c1082145

المؤلفون: Claus Eric Ott, Johannes Grünhagen, Marten Jäger, Daniel Horbelt, Simon Schwill, Klaus Kallenbach, Gao Guo, Thomas Manke, Petra Knaus, Stefan Mundlos, Peter N Robinson

المصدر: PLoS ONE, Vol 6, Iss 1, p e16250 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3031556?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b856512df3e04170a659b9d0b90f94f6

المؤلفون: Gao Guo, Petra Gehle, Sandra Doelken, José Luis Martin-Ventura, Yskert von Kodolitsch, Roland Hetzer, Peter N Robinson

المصدر: PLoS ONE, Vol 6, Iss 5, p e20138 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3103536?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/3ad3fdbe379d42ecab7145ac6760b2da

المؤلفون: Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J Alshalah, Claudia Mischung, Andreas Kuss, Nicholas Humphrey, Stefan Mundlos, Peter N Robinson

المصدر: PLoS Genetics, Vol 5, Iss 5, p e1000487 (2009)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2677160?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/93e32b74ce264ef280a095569890ff54

المؤلفون: Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Rare disease, Rare disease diagnosis, Innovative technologies, IRDiRC, Rare disease research, Genomics, Medicine

Relation: https://doi.org/10.1186/s13023-024-03361-0; https://doaj.org/toc/1750-1172; https://doaj.org/article/669290e2ed32488ea080f09a5a972315

الاتاحة: https://doi.org/10.1186/s13023-024-03361-0
https://doaj.org/article/669290e2ed32488ea080f09a5a972315

المؤلفون: Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M. Molster, Lucia Monaco, Carmencita D. Padilla, Anne R. Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, Flaminia Macchia

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Rare diseases, Visibility, Definition, Coding, Healthcare systems, Prevalence, Medicine

Relation: https://doi.org/10.1186/s13023-024-03322-7; https://doaj.org/toc/1750-1172; https://doaj.org/article/6511fb647b634113bca47862786d9736

الاتاحة: https://doi.org/10.1186/s13023-024-03322-7
https://doaj.org/article/6511fb647b634113bca47862786d9736

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, Maudde Dieuleveult, Viniciusde Souza, Bert BA de Vries, Estherde 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 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 Perezde 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, 200409 Mental health, School of Medicine, Faculty of Health, Institute for Innovation in Mental and Physical Health and Clinical Translation

Relation: http://hdl.handle.net/10779/DRO/DU:24562858.v2; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858

الاتاحة: http://hdl.handle.net/10779/DRO/DU:24562858.v2
https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858

المؤلفون: Tudor Groza, Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall, Justin T. Reese

المصدر: BMC Medical Informatics and Decision Making, Vol 24, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Large language models, Generative pretrained transformer, Artificial intelligence, Phenotype concept recognition, Human Phenotype Ontology, Computer applications to medicine. Medical informatics, R858-859.7

Relation: https://doi.org/10.1186/s12911-024-02439-w; https://doaj.org/toc/1472-6947; https://doaj.org/article/f4fb3d1859b74b69815dbe8519d05b0e

الاتاحة: https://doi.org/10.1186/s12911-024-02439-w
https://doaj.org/article/f4fb3d1859b74b69815dbe8519d05b0e