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11 |
Material Type: Artigo
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Characterization of single-nucleotide polymorphisms in coding regions of human genesLander, Eric S ; Cargill, Michele ; Altshuler, David ; Ireland, James ; Sklar, Pamela ; Ardlie, Kristin ; Patil, Nila ; Lane, Charles R ; Lim, Esther P ; Kalyanaraman, Nilesh ; Nemesh, James ; Ziaugra, Liuda ; Friedland, Lisa ; Rolfe, Alex ; Warrington, Janet ; Lipshutz, Robert ; Daley, George QNature genetics, 1999-07, Vol.22 (3), p.231-238 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
12 |
Material Type: Artigo
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Carriers of Rare Missense Variants in IFIH1 Are Protected from PsoriasisLi, Yonghong ; Liao, Wilson ; Cargill, Michele ; Chang, Monica ; Matsunami, Nori ; Feng, Bing-Jian ; Poon, Annie ; Callis-Duffin, Kristina P. ; Catanese, Joseph J. ; Bowcock, Anne M. ; Leppert, Mark F. ; Kwok, Pui-Yan ; Krueger, Gerald G. ; Begovich, Ann B.Journal of investigative dermatology, 2010-12, Vol.130 (12), p.2768-2772 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
13 |
Material Type: Artigo
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Presymptomatic risk assessment for chronic non-communicable diseasesPadhukasahasram, Badri ; Halperin, Eran ; Wessel, Jennifer ; Thomas, Daryl J ; Silver, Elana ; Trumbower, Heather ; Cargill, Michele ; Stephan, Dietrich A Sorensen, Thorkild I. A.PloS one, 2010-12, Vol.5 (12), p.e14338-e14338 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
14 |
Material Type: Artigo
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Two Loci on Chromosomes 2 and X for Premature Coronary Heart Disease Identified in Early- and Late-Settlement Populations of FinlandPajukanta, Päivi ; Cargill, Michele ; Viitanen, Laura ; Nuotio, Ilpo ; Kareinen, Anu ; Perola, Markus ; Terwilliger, Joseph D. ; Kempas, Elli ; Daly, Mark ; Lilja, Heidi ; Rioux, John D. ; Brettin, Thomas ; Viikari, Jorma S.A. ; Rönnemaa, Tapani ; Laakso, Markku ; Lander, Eric S. ; Peltonen, LeenaAmerican journal of human genetics, 2000-12, Vol.67 (6), p.1481-1493 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
15 |
Material Type: Artigo
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Familial Eosinophilia Maps to the Cytokine Gene Cluster on Human Chromosomal Region 5q31-q33Rioux, John D. ; Stone, Valerie A. ; Daly, Mark J. ; Cargill, Michele ; Green, Todd ; Nguyen, Huy ; Nutman, Thomas ; Zimmerman, Peter A. ; Tucker, Margaret A. ; Hudson, Thomas ; Goldstein, Alisa M. ; Lander, Eric ; Lin, Albert Y.American journal of human genetics, 1998-10, Vol.63 (4), p.1086-1094 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
16 |
Material Type: Artigo
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Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic DogsParker, Heidi G ; VonHoldt, Bridgett M ; Quignon, Pascale ; Margulies, Elliott H ; Shao, Stephanie ; Mosher, Dana S ; Spady, Tyrone C ; Elkahloun, Abdel ; Cargill, Michele ; Jones, Paul G ; Maslen, Cheryl L ; Acland, Gregory M ; Sutter, Nathan B ; Kuroki, Keiichi ; Bustamante, Carlos D ; Wayne, Robert K ; Ostrander, Elaine AScience (American Association for the Advancement of Science), 2009-08, Vol.325 (5943), p.995-998 [Periódico revisado por pares]Washington, DC: American Association for the Advancement of ScienceTexto completo disponível |
17 |
Material Type: Artigo
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Tay-Sachs disease carrier screening: Comparative analysis of NGS-based sequencing and enzyme testing resultsRobinson, Kristina ; Yang, Shan ; Li, Xu ; Ho, Yuan-Yuan ; Beltran, Daniel ; Murillo, Laura ; Harte, Rachel ; Cargill, Michele ; Faulkner, Nicole ; Nussbaum, RobertMolecular genetics and metabolism, 2020-02, Vol.129 (2), p.S135-S136 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
18 |
Material Type: Artigo
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Linkage disequilibrium in the human genomeReich, David E ; Cargill, Michele ; Bolk, Stacey ; Ireland, James ; Sabeti, Pardis C ; Richter, Daniel J ; Lavery, Thomas ; Kouyoumjian, Rose ; Farhadian, Shelli F ; Ward, Ryk ; Lander, Eric SNature (London), 2001-05, Vol.411 (6834), p.199-204 [Periódico revisado por pares]London: Nature PublishingTexto completo disponível |
19 |
Material Type: Artigo
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The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshopKhoury, Muin J ; McBride, Colleen M ; Schully, Sheri D ; Ioannidis, John P A ; Feero, W Gregory ; Janssens, A Cecile J W ; Gwinn, Marta ; Simons-Morton, Denise G ; Bernhardt, Jay M ; Cargill, Michele ; Chanock, Stephen J ; Church, George M ; Coates, Ralph J ; Collins, Francis S ; Croyle, Robert T ; Davis, Barry R ; Downing, Gregory J ; Duross, Amy ; Friedman, Susan ; Gail, Mitchell H ; Ginsburg, Geoffrey S ; Green, Robert C ; Greene, Mark H ; Greenland, Philip ; Gulcher, Jeffrey R ; Hsu, Andro ; Hudson, Kathy L ; Kardia, Sharon L R ; Kimmel, Paul L ; Lauer, Michael S ; Miller, Amy M ; Offit, Kenneth ; Ransohoff, David F ; Roberts, J Scott ; Rasooly, Rebekah S ; Stefansson, Kari ; Terry, Sharon F ; Teutsch, Steven M ; Trepanier, Angela ; Wanke, Kay L ; Witte, John S ; Xu, JianfengGenetics in medicine, 2009-08, Vol.11 (8), p.559-567 [Periódico revisado por pares]United StatesSem texto completo |
20 |
Material Type: Artigo
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Curating Genetic Association Literature for Common DiseasesSilver, Elana ; Halperin, Eran ; Kober, Kord ; Padhukasahasram, Badri ; Patil, Nila ; Sommargren, Michelle ; Stephan, Dietrich ; Thomas, Daryl ; Trumbower, Heather ; Cargill, MicheleNature precedings, 2009-04Texto completo disponível |