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1دورية أكاديمية
المؤلفون: Anya T. Joynt, Erin W. Kavanagh, Gregory A. Newby, Shakela Mitchell, Alice C. Eastman, Kathleen C. Paul, Alyssa D. Bowling, Derek L. Osorio, Christian A. Merlo, Shivani U. Patel, Karen S. Raraigh, David R. Liu, Neeraj Sharma, Garry R. Cutting
المصدر: Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 335-350 (2023)
مصطلحات موضوعية: MT: RNA/DNA Editing, canonical splice site variant, CSSV, CRISPR-Cas9-mediated adenine base editing, ABE, primary airway epithelial cells, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253123001701Test; https://doaj.org/toc/2162-2531Test
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2دورية أكاديمية
المؤلفون: Gijung Kwak, Olesia Gololobova, Neeraj Sharma, Colin Caine, Marina Mazur, Kathleen Mulka, Natalie E. West, George M. Solomon, Garry R. Cutting, Kenneth W. Witwer, Steven M. Rowe, Michael Paulaitis, George Aslanidi, Jung Soo Suk
المصدر: Journal of Extracellular Vesicles, Vol 12, Iss 6, Pp n/a-n/a (2023)
مصطلحات موضوعية: adeno‐associated virus, airway mucus, cellular entry, Extracellular vesicles, inhaled gene therapy, Cytology, QH573-671
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2001-3078Test
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3دورية أكاديمية
المؤلفون: Dadi Gao, Elisabetta Morini, Monica Salani, Aram J. Krauson, Anil Chekuri, Neeraj Sharma, Ashok Ragavendran, Serkan Erdin, Emily M. Logan, Wencheng Li, Amal Dakka, Jana Narasimhan, Xin Zhao, Nikolai Naryshkin, Christopher R. Trotta, Kerstin A. Effenberger, Matthew G. Woll, Vijayalakshmi Gabbeta, Gary Karp, Yong Yu, Graham Johnson, William D. Paquette, Garry R. Cutting, Michael E. Talkowski, Susan A. Slaugenhaupt
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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4دورية أكاديمية
المؤلفون: Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace, Hong Dang, Paul J. Gallins, Elizabeth E. Blue, Hua Ling, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Ronald L. Gibson, Elizabeth W. Pugh, Scott M. Blackman, Garry R. Cutting, Wanda K. O'Neal, Yi-Hui Zhou, Fred A. Wright, Michael R. Knowles, Jia Wen, Yun Li
المصدر: HGG Advances, Vol 3, Iss 2, Pp 100090- (2022)
مصطلحات موضوعية: genotype imputation, mendelian disease, cystic fibrosis, polygenic risk score, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000069Test; https://doaj.org/toc/2666-2477Test
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5دورية أكاديمية
المؤلفون: Karen S. Raraigh, Kathleen C. Paul, Jennifer L. Goralski, Erin N. Worthington, Anna V. Faino, Stanley Sciortino, Yiting Wang, Melis A. Aksit, Hua Ling, Derek L. Osorio, Frankline M. Onchiri, Shivani U. Patel, Christian A. Merlo, Kristina Montemayor, Ronald L. Gibson, Natalie E. West, Amita Thakerar, Robert J. Bridges, David N. Sheppard, Neeraj Sharma, Garry R. Cutting
المصدر: JCI Insight, Vol 7, Iss 6 (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2379-3708Test
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6دورية أكاديمية
المصدر: npj Digital Medicine, Vol 3, Iss 1, Pp 1-4 (2020)
مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2398-6352Test
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7دورية أكاديمية
المؤلفون: Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
مصطلحات موضوعية: Functional assays, Guidelines, Variant interpretation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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8دورية أكاديمية
المؤلفون: Shantanu Jain, Constantina Bakolitsa, Steven E Brenner, Predrag Radivojac, John Moult, Susanna Repo, Roger A Hoskins, Gaia Andreoletti, Daniel Barsky, Ajithavalli Chellapan, Hoyin Chu, Navya Dabbiru, Naveen K Kollipara, Melissa Ly, Andrew J Neumann, Lipika R Pal, Eric Odell, Gaurav Pandey, Robin C Peters-Petrulewicz, Rajgopal Srinivasan, Stephen F Yee, Sri Jyothsna Yeleswarapu, Maya Zuhl, Ogun Adebali, Ayoti Patra, Michael A Beer, Raghavendra Hosur, Jian Peng, Brady M Bernard, Michael Berry, Shengcheng Dong, Alan P Boyle, Aashish Adhikari, Jingqi Chen, Zhiqiang Hu, Robert Wang, Yaqiong Wang, Maximilian Miller, Yanran Wang, Yana Bromberg, Paola Turina, Emidio Capriotti, James J Han, Kivilcim Ozturk, Hannah Carter, Giulia Babbi, Samuele Bovo, Pietro Di Lena, Pier Luigi Martelli, Castrense Savojardo, Rita Casadio, Melissa S Cline, Greet De Baets, Sandra Bonache, Orland Díez, Sara Gutiérrez-Enríquez, Alejandro Fernández, Gemma Montalban, Lars Ootes, Selen Özkan, Natàlia Padilla, Casandra Riera, Xavier De la Cruz, Mark Diekhans, Peter J Huwe, Qiong Wei, Qifang Xu, Roland L Dunbrack, Valer Gotea, Laura Elnitski, Gennady Margolin, Piero Fariselli, Ivan V Kulakovskiy, Vsevolod J Makeev, Dmitry D Penzar, Ilya E Vorontsov, Alexander V Favorov, Julia R Forman, Marcia Hasenahuer, Maria S Fornasari, Gustavo Parisi, Ziga Avsec, Muhammed H Çelik, Thi Yen Duong Nguyen, Julien Gagneur, Fang-Yuan Shi, Matthew D Edwards, Yuchun Guo, Kevin Tian, Haoyang Zeng, David K Gifford, Jonathan Göke, Jan Zaucha, Julian Gough, Graham R S Ritchie, Adam Frankish, Jonathan M Mudge, Jennifer Harrow, Erin L Young, Yao Yu, Chad D Huff, Katsuhiko Murakami, Yoko Nagai, Tadashi Imanishi, Christopher J Mungall, Julius O B Jacobsen, Dongsup Kim, Chan-Seok Jeong, David T Jones, Mulin Jun Li, Violeta Beleva Guthrie, Rohit Bhattacharya, Yun-Ching Chen, Christopher Douville, Jean Fan, Dewey Kim, David Masica, Noushin Niknafs, Sohini Sengupta, Collin Tokheim, Tychele N Turner, Hui Ting Grace Yeo, Rachel Karchin, Sunyoung Shin, Rene Welch, Sunduz Keles, Yue Li, Manolis Kellis, Carles Corbi-Verge, Alexey V Strokach, Philip M Kim, Teri E Klein, Rahul Mohan, Nicholas A Sinnott-Armstrong, Michael Wainberg, Anshul Kundaje, Nina Gonzaludo, Angel C Y Mak, Aparna Chhibber, Hugo Y K Lam, Dvir Dahary, Simon Fishilevich, Doron Lancet, Insuk Lee, Benjamin Bachman, Panagiotis Katsonis, Rhonald C Lua, Stephen J Wilson, Olivier Lichtarge, Rajendra R Bhat, Laksshman Sundaram, Vivek Viswanath, Riccardo Bellazzi, Giovanna Nicora, Ettore Rizzo, Ivan Limongelli, Aziz M Mezlini, Ray Chang, Serra Kim, Carmen Lai, Robert O'Connor, Scott Topper, Jeroen van den Akker, Alicia Y Zhou, Anjali D Zimmer, Gilad Mishne, Timothy R Bergquist, Marcus R Breese, Rafael F Guerrero, Yuxiang Jiang, Nikki Kiga, Biao Li, Matthew Mort, Kymberleigh A Pagel, Vikas Pejaver, Moses H Stamboulian, Janita Thusberg, Sean D Mooney, Nuttinee Teerakulkittipong, Chen Cao, Kunal Kundu, Yizhou Yin, Chen-Hsin Yu, Michael Kleyman, Chiao-Feng Lin, Mary Stackpole, Stephen M Mount, Gökcen Eraslan, Nikola S Mueller, Tatsuhiko Naito, Aliz R Rao, Johnathan R Azaria, Aharon Brodie, Yanay Ofran, Aditi Garg, Debnath Pal, Alex Hawkins-Hooker, Henry Kenlay, John Reid, Eliseos J Mucaki, Peter K Rogan, Jana M Schwarz, David B Searls, Gyu Rie Lee, Chaok Seok, Andreas Krämer, Sohela Shah, ChengLai V Huang, Jack F Kirsch, Maxim Shatsky, Yue Cao, Haoran Chen, Mostafa Karimi, Oluwaseyi Moronfoye, Yuanfei Sun, Yang Shen, Ron Shigeta, Colby T Ford, Conor Nodzak, Aneeta Uppal, Xinghua Shi, Thomas Joseph, Sujatha Kotte, Sadhna Rana, Aditya Rao, V G Saipradeep, Naveen Sivadasan, Uma Sunderam, Mario Stanke, Andrew Su, Ivan Adzhubey, Daniel M Jordan, Shamil Sunyaev, Frederic Rousseau, Joost Schymkowitz, Joost Van Durme, Sean V Tavtigian, Marco Carraro, Manuel Giollo, Silvio C E Tosatto, Orit Adato, Liran Carmel, Noa E Cohen, Tzila Fenesh, Tamar Holtzer, Tamar Juven-Gershon, Ron Unger, Abhishek Niroula, Ayodeji Olatubosun, Jouni Väliaho, Yang Yang, Mauno Vihinen, Mary E Wahl, Billy Chang, Ka Chun Chong, Inchi Hu, Rui Sun, William Ka Kei Wu, Xiaoxuan Xia, Benny C Zee, Maggie H Wang, Meng Wang, Chunlei Wu, Yutong Lu, Ken Chen, Yuedong Yang, Christopher M Yates, Anat Kreimer, Zhongxia Yan, Nir Yosef, Huying Zhao, Zhipeng Wei, Zhaomin Yao, Fengfeng Zhou, Lukas Folkman, Yaoqi Zhou, Roxana Daneshjou, Russ B Altman, Fumitaka Inoue, Nadav Ahituv, Adam P Arkin, Federica Lovisa, Paolo Bonvini, Sarah Bowdin, Stefano Gianni, Elide Mantuano, Velia Minicozzi, Leonore Novak, Alessandra Pasquo, Annalisa Pastore, Maria Petrosino, Rita Puglisi, Angelo Toto, Liana Veneziano, Roberta Chiaraluce, Mad P Ball, Jason R Bobe, George M Church, Valerio Consalvi, David N Cooper, Bethany A Buckley, Molly B Sheridan, Garry R Cutting, Maria Chiara Scaini, Kamil J Cygan, Alger M Fredericks, David T Glidden, Christopher Neil, Christy L Rhine, William G Fairbrother, Aileen Y Alontaga, Aron W Fenton, Kenneth A Matreyek, Lea M Starita, Douglas M Fowler, Britt-Sabina Löscher, Andre Franke, Scott I Adamson, Brenton R Graveley, Joe W Gray, Mary J Malloy, John P Kane, Maria Kousi, Nicholas Katsanis, Max Schubach, Martin Kircher, Paul L F Tang, Pui-Yan Kwok, Richard H Lathrop, Wyatt T Clark, Guoying K Yu, Jonathan H LeBowitz, Francesco Benedicenti, Elisa Bettella, Stefania Bigoni, Federica Cesca, Isabella Mammi, Cristina Marino-Buslje, Donatella Milani, Angela Peron, Roberta Polli, Stefano Sartori, Franco Stanzial, Irene Toldo, Licia Turolla, Maria C Aspromonte, Mariagrazia Bellini, Emanuela Leonardi, Xiaoming Liu, Christian Marshall, W Richard McCombie, Lisa Elefanti, Chiara Menin, M Stephen Meyn, Alessandra Murgia, Kari C Y Nadeau, Susan L Neuhausen, Robert L Nussbaum, Mehdi Pirooznia, James B Potash, Dago F Dimster-Denk, Jasper D Rine, Jeremy R Sanford, Michael Snyder, Atina G Cote, Song Sun, Marta W Verby, Jochen Weile, Frederick P Roth, Ryan Tewhey, Pardis C Sabeti, Joan Campagna, Marwan M Refaat, Julianne Wojciak, Soren Grubb, Nicole Schmitt, Jay Shendure, Amanda B Spurdle, Dimitri J Stavropoulos, Nephi A Walton, Peter P Zandi, Elad Ziv, Wylie Burke, Flavia Chen, Lawrence R Carr, Selena Martinez, Jodi Paik, Julie Harris-Wai, Mark Yarborough, Stephanie M Fullerton, Barbara A Koenig, Gregory McInnes, Dustin Shigaki, John-Marc Chandonia, Mabel Furutsuki, Laura Kasak, Changhua Yu, Rui Chen, Iddo Friedberg, Gad A Getz, Qian Cong, Lisa N Kinch, Jing Zhang, Nick V Grishin, Alin Voskanian, Maricel G Kann, Elizabeth Tran, Nilah M Ioannidis, Jesse M Hunter, Rupa Udani, Binghuang Cai, Alexander A Morgan, Artem Sokolov, Joshua M Stuart, Giovanni Minervini, Alexander M Monzon, Serafim Batzoglou, Atul J Butte, Marc S Greenblatt, Reece K Hart, Ryan Hernandez, Tim J P Hubbard, Scott Kahn, Anne O'Donnell-Luria, Pauline C Ng, John Shon, Joris Veltman, Justin M Zook
المساهمون: Jain, Shantanu, Bakolitsa, Constantina, E Brenner, Steven, Radivojac, Predrag, Moult, John, Repo, Susanna, A Hoskins, Roger, Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, K Kollipara, Naveen, Ly, Melissa, J Neumann, Andrew, R Pal, Lipika, Odell, Eric, Pandey, Gaurav, C Peters-Petrulewicz, Robin, Srinivasan, Rajgopal, F Yee, Stephen, Jyothsna Yeleswarapu, Sri, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, A Beer, Michael, Hosur, Raghavendra, Peng, Jian, M Bernard, Brady, Berry, Michael, Dong, Shengcheng, P Boyle, Alan, Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, J Han, Jame, Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, Di Lena, Pietro, Luigi Martelli, Pier, Savojardo, Castrense, Casadio, Rita, S Cline, Melissa, De Baets, Greet, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, Fernández, Alejandro, Montalban, Gemma, Ootes, Lar, Özkan, Selen, Padilla, Natàlia, Riera, Casandra, De la Cruz, Xavier, Diekhans, Mark, J Huwe, Peter, Wei, Qiong, Xu, Qifang, L Dunbrack, Roland, Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, V Kulakovskiy, Ivan, J Makeev, Vsevolod, D Penzar, Dmitry, E Vorontsov, Ilya, V Favorov, Alexander, R Forman, Julia, Hasenahuer, Marcia, S Fornasari, Maria, Parisi, Gustavo, Avsec, Ziga, H Çelik, Muhammed, Yen Duong Nguyen, Thi, Gagneur, Julien, Shi, Fang-Yuan, D Edwards, Matthew, Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, K Gifford, David, Göke, Jonathan, Zaucha, Jan, Gough, Julian, S Ritchie, Graham R, Frankish, Adam, M Mudge, Jonathan, Harrow, Jennifer, L Young, Erin, Yu, Yao
مصطلحات موضوعية: genetic variant, missense mutation, protein stability
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38389099; volume:22; issue:22;25(1):53.; firstpage:1; lastpage:46; numberofpages:46; journal:GENOME BIOLOGY; https://hdl.handle.net/11573/1703621Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185859716
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المؤلفون: Yi-Hui Zhou, Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth E. Blue, Kati J. Buckingham, Joseph M. Collaco, Anna V. Faino, William W. Gordon, Kurt N. Hetrick, Hua Ling, Weifang Liu, Frankline M. Onchiri, Kymberleigh Pagel, Elizabeth W. Pugh, Karen S. Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Scott M. Blackman, Garry R. Cutting, Ronald L. Gibson, Wanda K. O’Neal, Fred A. Wright, Michael R. Knowles
المصدر: American Journal of Respiratory and Critical Care Medicine. 207:1324-1333
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Critical Care and Intensive Care Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d8a88ca30acf5dd09840564e633fef49Test
https://doi.org/10.1164/rccm.202209-1653ocTest -
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المؤلفون: Vikas Pejaver, Alicia B. Byrne, Bing-Jian Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell-Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, Ahmad A. Tayoun, Jonathan S. Berg, Garry R. Cutting, Sian Ellard, Peter Kang, Izabela Karbassi, Jessica Mester, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Scott Topper
المصدر: The American Journal of Human Genetics. 109:2163-2177
مصطلحات موضوعية: Consensus, Virulence, Calibration, Genetics, Humans, Educational Status, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63d921f44375e47e5baccb6ef134edc1Test
https://doi.org/10.1016/j.ajhg.2022.10.013Test