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The impact of ergometer design on hip and trunk muscle activity patterns in elite rowers: an electromyographic assessmentNowicky, Alex V ; Horne, Sara ; Burdett, RichardJournal of sports science & medicine, 2005-03, Vol.4 (1), p.18-28 [Periódico revisado por pares]Turkey: Journal of Sports Science and MedicineTexto completo disponível |
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Reports of Hospital and Surgical Practice in the Hospitals and Asylums of Great Britain and IrelandMr. Atkinson ; Southam, F. A. ; Sellers, Richard BurdettBMJ, 1883-06, Vol.1 (1170), p.1065-1066 [Periódico revisado por pares]London: British Medical Journal Publishing GroupTexto completo disponível |
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ArrayExpress update--from an archive of functional genomics experiments to the atlas of gene expressionParkinson, Helen ; Kapushesky, Misha ; Kolesnikov, Nikolay ; Rustici, Gabriella ; Shojatalab, Mohammad ; Abeygunawardena, Niran ; Berube, Hugo ; Dylag, Miroslaw ; Emam, Ibrahim ; Farne, Anna ; Holloway, Ele ; Lukk, Margus ; Malone, James ; Mani, Roby ; Pilicheva, Ekaterina ; Rayner, Tim F ; Rezwan, Faisal ; Sharma, Anjan ; Williams, Eleanor ; Bradley, Xiangqun Zheng ; Adamusiak, Tomasz ; Brandizi, Marco ; Burdett, Tony ; Coulson, Richard ; Krestyaninova, Maria ; Kurnosov, Pavel ; Maguire, Eamonn ; Neogi, Sudeshna Guha ; Rocca-Serra, Philippe ; Sansone, Susanna-Assunta ; Sklyar, Nataliya ; Zhao, Mengyao ; Sarkans, Ugis ; Brazma, AlvisNucleic acids research, 2009-01, Vol.37 (suppl-1), p.D868-D872 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndromeBallew, Bari J ; Joseph, Vijai ; De, Saurav ; Sarek, Grzegorz ; Vannier, Jean-Baptiste ; Stracker, Travis ; Schrader, Kasmintan A ; Small, Trudy N ; O'Reilly, Richard ; Manschreck, Chris ; Harlan Fleischut, Megan M ; Zhang, Liying ; Sullivan, John ; Stratton, Kelly ; Yeager, Meredith ; Jacobs, Kevin ; Giri, Neelam ; Alter, Blanche P ; Boland, Joseph ; Burdett, Laurie ; Offit, Kenneth ; Boulton, Simon J ; Savage, Sharon A ; Petrini, John H J Scott, Hamish S.PLoS genetics, 2013-08, Vol.9 (8), p.e1003695-e1003695 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersStewart, Douglas R ; Pemov, Alexander ; Johnston, Jennifer J ; Sapp, Julie C ; Yeager, Meredith ; He, Ji ; Boland, Joseph F ; Burdett, Laurie ; Brown, Christina ; Gatti, Richard A ; Alter, Blanche P ; Biesecker, Leslie G ; Savage, Sharon A Krahe, RalfPloS one, 2014-06, Vol.9 (6), p.e98686-e98686 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databasesVail, Paris J. ; Morris, Brian ; van Kan, Aric ; Burdett, Brianna C. ; Moyes, Kelsey ; Theisen, Aaron ; Kerr, Iain D. ; Wenstrup, Richard J. ; Eggington, Julie M.Journal of community genetics, 2015-10, Vol.6 (4), p.351-359 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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A comprehensive candidate gene approach identifies genetic variation associated with osteosarcomaMirabello, Lisa ; Yu, Kai ; Berndt, Sonja I ; Burdett, Laurie ; Wang, Zhaoming ; Chowdhury, Salma ; Teshome, Kedest ; Uzoka, Arinze ; Hutchinson, Amy ; Grotmol, Tom ; Douglass, Chester ; Hayes, Richard B ; Hoover, Robert N ; Savage, Sharon ABMC cancer, 2011-05, Vol.11 (1), p.209-209, Article 209 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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GA4GH: International policies and standards for data sharing across genomic research and healthcareRehm, Heidi L. ; Smith, Lindsay ; Adams, Jeremy B. ; Alterovitz, Gil ; Babb, Lawrence J. ; Beauvais, Michael J.S. ; Beck, Tim ; Beckmann, Jacques S. ; Bernick, David ; Bonfield, James K. ; Bourque, Guillaume ; Bowers, Sarion R. ; Brush, Matthew H. ; Bujold, David ; Buske, Orion J. ; Cabili, Moran N. ; Carroll, Robert J. ; Casas-Silva, Esmeralda ; Cherry, J. Michael ; Chung, Justina ; Clissold, Hayley L. ; Cook-Deegan, Robert M. ; Courtot, Mélanie ; Davies, Robert M. ; Dolman, Lena I. ; Dursi, L. Jonathan ; Eddy, James A. ; Ellrott, Kyle P. ; Fakhro, Khalid A. ; Flicek, Paul ; Fore, Ian M. ; Freeberg, Mallory A. ; Freimuth, Robert R. ; Fuerth, Jonathan ; Ghanaim, Elena M. ; Grossman, Robert L. ; Groza, Tudor ; Guigó, Roderic ; Gupta, Dipayan ; Hamosh, Ada ; Hartley, Dean Mitchell ; Haussler, David ; Hobb, Ashley E. ; Hunt, Sarah E. ; Jamuar, Saumya S. ; Joly, Yann ; Jones, Steven J.M. ; Kanitz, Alexander ; Kato, Kazuto ; Kelleher, Jerome ; Kerry, Giselle ; Khor, Seik-Soon ; Knoppers, Bartha M. ; Kosaki, Kenjiro ; Lawson, Jonathan ; Li, Stephanie ; Lin, Michael F. ; Linden, Mikael ; Mann, Alice L. ; Marshall, John ; Middleton, Anna ; Mulder, Nicola ; Munoz-Torres, Monica C. ; Nag, Rishi ; Niu, Jeffrey ; Nyrönen, Tommi H. ; Oesterle, Sabine ; Paglione, Laura A.D. ; Palumbo, Emilio ; Parkinson, Helen E. ; Philippakis, Anthony A. ; Rambla, Jordi ; Rendon, Augusto ; Robinson, Peter N. ; Rodarmer, Kurt W. ; Rueda, Manuel ; Rushton, Gregory A. ; Schuilenburg, Helen ; Scollen, Serena ; Smith, Albert V. ; Sofia, Heidi J. ; Spalding, Dylan ; Spurdle, Amanda B. ; Tan, Patrick ; Thomson, Alastair A. ; Tickle, Timothy L. ; Tokunaga, Katsushi ; Törnroos, Juha ; Upchurch, Sean ; Guimera, Roman Valls ; Varma, Susheel ; Viner, Coby ; Voisin, Craig ; Wagner, Alex H. ; Walsh, Brian P. ; Williams, Marc S. ; Winkler, Eva C. ; Yamasaki, Chisato ; Yung, Christina K. ; North, KathrynCell genomics, 2021-11, Vol.1 (2), p.100029, Article 100029 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AMLBrown, Anna L. ; Arts, Peer ; Carmichael, Catherine L. ; Babic, Milena ; Dobbins, Julia ; Chong, Chan-Eng ; Schreiber, Andreas W. ; Feng, Jinghua ; Phillips, Kerry ; Wang, Paul P.S. ; Ha, Thuong ; Homan, Claire C. ; King-Smith, Sarah L. ; Rawlings, Lesley ; Vakulin, Cassandra ; Dubowsky, Andrew ; Burdett, Jessica ; Moore, Sarah ; McKavanagh, Grace ; Henry, Denae ; Wells, Amanda ; Mercorella, Belinda ; Nicola, Mario ; Suttle, Jeffrey ; Wilkins, Ella ; Li, Xiao-Chun ; Michaud, Joelle ; Brautigan, Peter ; Cannon, Ping ; Altree, Meryl ; Jaensch, Louise ; Fine, Miriam ; Butcher, Carolyn ; D'Andrea, Richard J. ; Lewis, Ian D. ; Hiwase, Devendra K. ; Papaemmanuil, Elli ; Horwitz, Marshall S. ; Natsoulis, Georges ; Rienhoff, Hugh Y. ; Patton, Nigel ; Mapp, Sally ; Susman, Rachel ; Morgan, Susan ; Cooney, Julian ; Currie, Mark ; Popat, Uday ; Bochtler, Tilmann ; Izraeli, Shai ; Bradstock, Kenneth ; Godley, Lucy A. ; Krämer, Alwin ; Fröhling, Stefan ; Wei, Andrew H. ; Forsyth, Cecily ; Mar Fan, Helen ; Poplawski, Nicola K. ; Hahn, Christopher N. ; Scott, Hamish S.Blood advances, 2020-03, Vol.4 (6), p.1131-1144 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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The Intersection of HPV Epidemiology, Genomics and Mechanistic Studies of HPV-Mediated CarcinogenesisMirabello, Lisa ; Clarke, Megan A ; Nelson, Chase W ; Dean, Michael ; Wentzensen, Nicolas ; Yeager, Meredith ; Cullen, Michael ; Boland, Joseph F ; Schiffman, Mark ; Burk, Robert DViruses, 2018-02, Vol.10 (2), p.80 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |