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1دورية أكاديمية
المصدر: HGG Advances, Vol 5, Iss 3, Pp 100286- (2024)
مصطلحات موضوعية: congenital heart disease, arrhythmia, cardiomyopathy, heart defects, diagnostic yield after next-generation sequencing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247724000253Test; https://doaj.org/toc/2666-2477Test
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2دورية أكاديمية
المؤلفون: Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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3دورية أكاديمية
المؤلفون: Peter Mikula, Oldřich Tomášek, Dušan Romportl, Timothy K. Aikins, Jorge E. Avendaño, Bukola D. A. Braimoh-Azaki, Adams Chaskda, Will Cresswell, Susan J. Cunningham, Svein Dale, Gabriela R. Favoretto, Kelvin S. Floyd, Hayley Glover, Tomáš Grim, Dominic A. W. Henry, Tomas Holmern, Martin Hromada, Soladoye B. Iwajomo, Amanda Lilleyman, Flora J. Magige, Rowan O. Martin, Marina F. de A. Maximiano, Eric D. Nana, Emmanuel Ncube, Henry Ndaimani, Emma Nelson, Johann H. van Niekerk, Carina Pienaar, Augusto J. Piratelli, Penny Pistorius, Anna Radkovic, Chevonne Reynolds, Eivin Røskaft, Griffin K. Shanungu, Paulo R. Siqueira, Tawanda Tarakini, Nattaly Tejeiro-Mahecha, Michelle L. Thompson, Wanyoike Wamiti, Mark Wilson, Donovan R. C. Tye, Nicholas D. Tye, Aki Vehtari, Piotr Tryjanowski, Michael A. Weston, Daniel T. Blumstein, Tomáš Albrecht
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-10 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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4دورية أكاديمية
المؤلفون: Kevin M. Bowling, Michelle L. Thompson, Melissa A. Kelly, Sarah Scollon, Anne M. Slavotinek, Bradford C. Powell, Brian M. Kirmse, Laura G. Hendon, Kyle B. Brothers, Bruce R. Korf, Gregory M. Cooper, John M. Greally, Anna C. E. Hurst
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-17 (2022)
مصطلحات موضوعية: Incidental findings, Genomics, Genetic testing, Pediatrics, Disease severity, Personal utility, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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5دورية أكاديمية
المؤلفون: Nita A Limdi, Devin Absher, Irf Asif, Lori Bateman, Greg Barsh, Kevin M. Bowling, Gregory M. Cooper, Brittney H. Davis, Kelly M. East, Candice R. Finnila, Blake Goff, Susan Hiatt, Melissa Kelly, Whitley V. Kelley, Bruce R. Korf, Donald R. Latner, James Lawlor, Thomas May, Matt Might, Irene P. Moss, Mariko Nakano-Okuno, Tiffany Osborne, Stephen Sodeke, Adriana Stout, Michelle L. Thompson
المصدر: Journal of Clinical and Translational Science, Vol 7, Pp 100-101 (2023)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
العلاقة: https://www.cambridge.org/core/product/identifier/S2059866123003837/type/journal_articleTest; https://doaj.org/toc/2059-8661Test
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6دورية أكاديمية
المؤلفون: Amy A. Lemke, Michelle L. Thompson, Emily C. Gimpel, Katelyn C. McNamara, Carla A. Rich, Candice R. Finnila, Meagan E. Cochran, James M. J. Lawlor, Kelly M. East, Kevin M. Bowling, Donald R. Latner, Susan M. Hiatt, Michelle D. Amaral, Whitley V. Kelley, Veronica Greve, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah L. Deans, Carly Tuura, Trent Hughes, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C. E. Hurst, Brian M. Kirmse, Renate Savich, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper, Kyle B. Brothers
المصدر: Journal of Personalized Medicine, Vol 13, Iss 7, p 1026 (2023)
مصطلحات موضوعية: genome sequencing, parent–infant bonding, timing of disclosure of results, parental guilt, utility, Medicine
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Philippa J. Barrell, Julie M. Latimer, Samantha J. Baldwin, Michelle L. Thompson, Jeanne M.E. Jacobs, Anthony J. Conner
المصدر: BMC Biotechnology, Vol 17, Iss 1, Pp 1-10 (2017)
مصطلحات موضوعية: Acetohydroxyacid synthase, Acetolactate synthase, Chlorsulfuron resistance, Intragenic selectable marker, Potato, Somatic cell selection, Biotechnology, TP248.13-248.65
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12896-017-0371-4Test; https://doaj.org/toc/1472-6750Test
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8دورية أكاديمية
المؤلفون: Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana S. Whittle, Benjamin T. Weaver, Amy S. Nesmith, Richard M. Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper
المصدر: Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
مصطلحات موضوعية: Developmental delay, Intellectual disability, De novo, Clinical sequencing, CSER, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-017-0433-1Test; https://doaj.org/toc/1756-994XTest
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9دورية أكاديمية
المؤلفون: Michelle L. Thompson, Pan Chen, Xiaohui Yan, Hanna Kim, Akeem R. Borom, Nathan B. Roberts, Kim A. Caldwell, Guy A. Caldwell
المصدر: Disease Models & Mechanisms, Vol 7, Iss 2, Pp 233-243 (2014)
مصطلحات موضوعية: ALS, ER stress, Chaperone, Neurotransmission, TorsinA, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
العلاقة: http://dmm.biologists.org/content/7/2/233Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test
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10
المؤلفون: Brothers, Amy A. Lemke, Michelle L. Thompson, Emily C. Gimpel, Katelyn C. McNamara, Carla A. Rich, Candice R. Finnila, Meagan E. Cochran, James M. J. Lawlor, Kelly M. East, Kevin M. Bowling, Donald R. Latner, Susan M. Hiatt, Michelle D. Amaral, Whitley V. Kelley, Veronica Greve, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah L. Deans, Carly Tuura, Trent Hughes, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C. E. Hurst, Brian M. Kirmse, Renate Savich, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper, Kyle B.
المصدر: Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1026
مصطلحات موضوعية: genome sequencing, parent–infant bonding, timing of disclosure of results, parental guilt, utility
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::657740f79eb9a508fdaea4a4ed6566e0Test