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: Breanna J. Beers, Morgan N. Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael R. Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J. Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena A. Walkiewicz, Jia Yan

المصدر: Frontiers in Immunology, Vol 14 (2023)

مصطلحات موضوعية: genetic, copy number, immunity, sequencing, microarray, diagnosis, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1172004/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/5a9a5d2c1d2843bb9d22ca82e9ec744f

المؤلفون: Morgan N. Similuk, Jia Yan, Rajarshi Ghosh, Andrew J. Oler, Luis M. Franco, Michael R. Setzer, Michael Kamen, Colleen Jodarski, Thomas DiMaggio, Joie Davis, Rachel Gore, Leila Jamal, Adrienne Borges, Nicole Gentile, Julie Niemela, Chenery Lowe, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Amy P. Hsu, Celine Hong, Patricia Littel, Bryce A. Seifert, Joshua Milner, Jennifer J. Johnston, Xi Cheng, Zhiwen Li, Daniel Veltri, Ke Huang, Krishnaveni Kaladi, Jason Barnett, Lingwen Zhang, Nikita Vlasenko, Yongjie Fan, Eric Karlins, Satishkumar Ranganathan Ganakammal, Robert Gilmore, Emily Tran, Alvin Yun, Joseph Mackey, Svetlana Yazhuk, Justin Lack, Vasudev Kuram, Wenjia Cao, Susan Huse, Karen Frank, Gary Fahle, Sergio Rosenzweig, Yan Su, SuJin Hwang, Weimin Bi, John Bennett, Ian A. Myles, Suk See De Ravin, Ivan Fuss, Warren Strober, Bibiana Bielekova, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Peter Williamson, Kelly Kumar, Caeden Dempsy, Pamela Frischmeyer-Guerrerio, Robin Fisch, Hyejeong Bolan, Dean D. Metcalfe, Hirsh Komarow, Melody Carter, Kirk M. Druey, Irini Sereti, Lesia Dropulic, Amy D. Klion, Paneez Khoury, Elise M. O' Connell, Nicole C. Holland-Thomas, Thomas Brown, David H. McDermott, Philip M. Murphy, Vanessa Bundy, Michael D. Keller, Christine Peng, Helen Kim, Stephanie Norman, Ottavia M. Delmonte, Elizabeth Kang, Helen C. Su, Harry Malech, Alexandra Freeman, Christa Zerbe, Gulbu Uzel, Jenna R.E. Bergerson, V. Koneti Rao, Kenneth N. Olivier, Jonathan J. Lyons, Andrea Lisco, Jeffrey I. Cohen, Michail S. Lionakis, Leslie G. Biesecker, Sandhya Xirasagar, Luigi D. Notarangelo, Steven M. Holland, Magdalena A. Walkiewicz

المصدر: J Allergy Clin Immunol

مصطلحات موضوعية: Male, Phenotype, Immunology, Humans, Immunology and Allergy, Exome, Female, Genetic Testing, Genomics, Prospective Studies, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f8a28d08c3a4960c10b7fc3d195a47
https://doi.org/10.1016/j.jaci.2022.06.009

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

Relation: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858

الاتاحة: https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858

المؤلفون: Breanna J. Beers, Morgan N. Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael R. Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J. Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena A. Walkiewicz, Jia Yan

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, genetic, copy number, immunity, sequencing, microarray, diagnosis, primary immunodeficiency, pediatric

Relation: https://figshare.com/articles/dataset/Table_1_Chromosomal_microarray_analysis_supplements_exome_sequencing_to_diagnose_children_with_suspected_inborn_errors_of_immunity_xlsx/22768616

الاتاحة: https://doi.org/10.3389/fimmu.2023.1172004.s002
https://figshare.com/articles/dataset/Table_1_Chromosomal_microarray_analysis_supplements_exome_sequencing_to_diagnose_children_with_suspected_inborn_errors_of_immunity_xlsx/22768616

المؤلفون: Breanna J. Beers, Morgan N. Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael R. Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J. Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena A. Walkiewicz, Jia Yan

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, genetic, copy number, immunity, sequencing, microarray, diagnosis, primary immunodeficiency, pediatric

Relation: https://figshare.com/articles/dataset/DataSheet_1_Chromosomal_microarray_analysis_supplements_exome_sequencing_to_diagnose_children_with_suspected_inborn_errors_of_immunity_docx/22768610

الاتاحة: https://doi.org/10.3389/fimmu.2023.1172004.s001
https://figshare.com/articles/dataset/DataSheet_1_Chromosomal_microarray_analysis_supplements_exome_sequencing_to_diagnose_children_with_suspected_inborn_errors_of_immunity_docx/22768610

المؤلفون: Nicole A Vasilevsky, Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni, Gioconda F Alyea, Joanna S Amberger, Larry Babb, James P Balhoff, Taylor I Bingaman, Gully A Burns, Orion J Buske, Tiffany J Callahan, Leigh C Carmody, Paula Carrio Cordo, Lauren E Chan, George S Chang, Sean L Christiaens, Michel Dumontier, Laura E Failla, May J Flowers, H. Alpha Garrett, Jennifer L Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L Harris, Jason A Hilton, Daniel S Himmelstein, Charles Tapley Hoyt, Megan S Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna R Maglott, Adriana J Malheiro, Birgit H M Meldal, Monica C Munoz-Torres, Tristan H Nelson, Frank W Nicholas, David Ochoa, Daniel P Olson, Tudor I Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L Rehm, Lyubov Remennik, Erin R Riggs, Paola Roncaglia, Justyne E Ross, Marion F Shadbolt, Kent A Shefchek, Morgan N Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L Storm, Doron Stupp, Gregory S Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, Darin Tay, Courtney L Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H Wagner, Danielle Welter, Patricia L Whetzel, Lori L Whiteman, Valerie Wood, Colleen H Xu, Andreas Zankl, Xingmin Aaron Zhang, Christopher G Chute, Peter N Robinson, Christopher J Mungall, Ada Hamosh, Melissa A Haendel

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eb95e9f275c4c5ac6590aa22f6896dbb
https://doi.org/10.1101/2022.04.13.22273750