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1دورية أكاديمية
المؤلفون: Zhengzheng S Liang, Irene Cimino, Binnaz Yalcin, Narayanan Raghupathy, Valerie E Vancollie, Ximena Ibarra-Soria, Helen V Firth, Debra Rimmington, I Sadaf Farooqi, Christopher J Lelliott, Steven C Munger, Stephen O'Rahilly, Anne C Ferguson-Smith, Anthony P Coll, Darren W Logan
المصدر: PLoS Genetics, Vol 16, Iss 9, p e1008916 (2020)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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3دورية أكاديمية
المؤلفون: Melina Claussnitzer, Victoria N. Parikh, Alex H. Wagner, Jeremy A. Arbesfeld, Carol J. Bult, Helen V. Firth, Lara A. Muffley, Alex N. Nguyen Ba, Kevin Riehle, Frederick P. Roth, Daniel Tabet, Benedetta Bolognesi, Andrew M. Glazer, Alan F. Rubin
المصدر: Genome Biology, Vol 25, Iss 1, Pp 1-8 (2024)
مصطلحات موضوعية: Genomics, Standards, Genetic variants, Multiplexed assays of variant effect, MAVE, Deep mutational scanning, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1474-760XTest
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4دورية أكاديمية
المؤلفون: Elizabeth J. Radford, Hong-Kee Tan, Malin H. L. Andersson, James D. Stephenson, Eugene J. Gardner, Holly Ironfield, Andrew J. Waters, Daniel Gitterman, Sarah Lindsay, Federico Abascal, Iñigo Martincorena, Anna Kolesnik-Taylor, Elise Ng-Cordell, Helen V. Firth, Kate Baker, John R. B. Perry, David J. Adams, Sebastian S. Gerety, Matthew E. Hurles
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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5دورية أكاديمية
المؤلفون: Petr Danecek, Eugene J. Gardner, Tomas W. Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y. Eberhardt, Caroline F. Wright, Helen V. Firth, Matthew E. Hurles
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101818- (2024)
مصطلحات موضوعية: Chromosomal microarrays, Copy-number variation, Exome sequencing, Neurodovelopmental disease, Rare disease, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424009646Test; https://doaj.org/toc/2949-7744Test
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6دورية أكاديمية
المؤلفون: Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100836- (2023)
مصطلحات موضوعية: Anueploidy, Chromosomal alterations, Developmental disorders, Mosaic, Uniparental disomy, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423008452Test; https://doaj.org/toc/2949-7744Test
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7دورية أكاديمية
المؤلفون: Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple
المصدر: HGG Advances, Vol 4, Iss 1, Pp 100162- (2023)
مصطلحات موضوعية: human phenotype ontology, phenotype, genotype, developmental disease, growth, developmental milestones, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000793Test; https://doaj.org/toc/2666-2477Test
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8دورية أكاديمية
المؤلفون: Heidi L. Rehm, Angela J.H. Page, Lindsay Smith, Jeremy B. Adams, Gil Alterovitz, Lawrence J. Babb, Maxmillian P. Barkley, Michael Baudis, Michael J.S. Beauvais, Tim Beck, Jacques S. Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K. Bonfield, Tiffany F. Boughtwood, Guillaume Bourque, Sarion R. Bowers, Anthony J. Brookes, Michael Brudno, Matthew H. Brush, David Bujold, Tony Burdett, Orion J. Buske, Moran N. Cabili, Daniel L. Cameron, Robert J. Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P. Chaudhari, Shu Hui Chen, J. Michael Cherry, Justina Chung, Melissa Cline, Hayley L. Clissold, Robert M. Cook-Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M. Davies, Danielle Denisko, Megan J. Doerr, Lena I. Dolman, Edward S. Dove, L. Jonathan Dursi, Stephanie O.M. Dyke, James A. Eddy, Karen Eilbeck, Kyle P. Ellrott, Susan Fairley, Khalid A. Fakhro, Helen V. Firth, Michael S. Fitzsimons, Marc Fiume, Paul Flicek, Ian M. Fore, Mallory A. Freeberg, Robert R. Freimuth, Lauren A. Fromont, Jonathan Fuerth, Clara L. Gaff, Weiniu Gan, Elena M. Ghanaim, David Glazer, Robert C. Green, Malachi Griffith, Obi L. Griffith, Robert L. Grossman, Tudor Groza, Jaime M. Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa A. Haendel, Ada Hamosh, David P. Hansen, Reece K. Hart, Dean Mitchell Hartley, David Haussler, Rachele M. Hendricks-Sturrup, Calvin W.L. Ho, Ashley E. Hobb, Michael M. Hoffman, Oliver M. Hofmann, Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah E. Hunt, Ammar Husami, Julius O. Jacobsen, Saumya S. Jamuar, Elizabeth L. Janes, Francis Jeanson, Aina Jené, Amber L. Johns, Yann Joly, Steven J.M. Jones, Alexander Kanitz, Kazuto Kato, Thomas M. Keane, Kristina Kekesi-Lafrance, Jerome Kelleher, Giselle Kerry, Seik-Soon Khor, Bartha M. Knoppers, Melissa A. Konopko, Kenjiro Kosaki, Martin Kuba, Jonathan Lawson, Rasko Leinonen, Stephanie Li, Michael F. Lin, Mikael Linden, Xianglin Liu, Isuru Udara Liyanage, Javier Lopez, Anneke M. Lucassen, Michael Lukowski, Alice L. Mann, John Marshall, Michele Mattioni, Alejandro Metke-Jimenez, Anna Middleton, Richard J. Milne, Fruzsina Molnár-Gábor, Nicola Mulder, Monica C. Munoz-Torres, Rishi Nag, Hidewaki Nakagawa, Jamal Nasir, Arcadi Navarro, Tristan H. Nelson, Ania Niewielska, Amy Nisselle, Jeffrey Niu, Tommi H. Nyrönen, Brian D. O’Connor, Sabine Oesterle, Soichi Ogishima, Vivian Ota Wang, Laura A.D. Paglione, Emilio Palumbo, Helen E. Parkinson, Anthony A. Philippakis, Angel D. Pizarro, Andreas Prlic, Jordi Rambla, Augusto Rendon, Renee A. Rider, Peter N. Robinson, Kurt W. Rodarmer, Laura Lyman Rodriguez, Alan F. Rubin, Manuel Rueda, Gregory A. Rushton, Rosalyn S. Ryan, Gary I. Saunders, Helen Schuilenburg, Torsten Schwede, Serena Scollen, Alexander Senf, Nathan C. Sheffield, Neerjah Skantharajah, Albert V. Smith, Heidi J. Sofia, Dylan Spalding, Amanda B. Spurdle, Zornitza Stark, Lincoln D. Stein, Makoto Suematsu, Patrick Tan, Jonathan A. Tedds, Alastair A. Thomson, Adrian Thorogood, Timothy L. Tickle, Katsushi Tokunaga, Juha Törnroos, David Torrents, Sean Upchurch, Alfonso Valencia, Roman Valls Guimera, Jessica Vamathevan, Susheel Varma, Danya F. Vears, Coby Viner, Craig Voisin, Alex H. Wagner, Susan E. Wallace, Brian P. Walsh, Marc S. Williams, Eva C. Winkler, Barbara J. Wold, Grant M. Wood, J. Patrick Woolley, Chisato Yamasaki, Andrew D. Yates, Christina K. Yung, Lyndon J. Zass, Ksenia Zaytseva, Junjun Zhang, Peter Goodhand, Kathryn North, Ewan Birney
المصدر: Cell Genomics, Vol 1, Iss 2, Pp 100029- (2021)
مصطلحات موضوعية: data sharing, data access, precision medicine, learning health system, genomics, standards, Genetics, QH426-470, Internal medicine, RC31-1245
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666979X21000367Test; https://doaj.org/toc/2666-979XTest
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9دورية أكاديمية
المؤلفون: Tanvi Acharya, Helen V. Firth, Shilpa Dugar, Tassos Grammatikopoulos, Luis Seabra, Angharad Walters, Yanick J. Crow, Alasdair P. J. Parker
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
مصطلحات موضوعية: coats plus, leukodystrophy, stn1, Genetics, QH426-470
العلاقة: https://doi.org/10.1002/mgg3.1708Test; https://doaj.org/toc/2324-9269Test; https://doaj.org/article/d859a935d014448faee8ddeeaca09f07Test
الإتاحة: https://doi.org/10.1002/mgg3.1708Test
https://doaj.org/article/d859a935d014448faee8ddeeaca09f07Test -
10دورية أكاديمية
المؤلفون: Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: Science
العلاقة: https://doi.org/10.1038/s41467-020-20852-3Test; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafaTest
الإتاحة: https://doi.org/10.1038/s41467-020-20852-3Test
https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafaTest