Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Artigo
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Heterologous mitochondrial DNA recombination in human cellsD'Aurelio, Marilena ; Gajewski, Carl D. ; Lin, Michael T. ; Mauck, William M. ; Shao, Leon Z. ; Lenaz, Giorgio ; Moraes, Carlos T. ; Manfredi, GiovanniHuman molecular genetics, 2004-12, Vol.13 (24), p.3171-3179 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunctionRobertson, Nahid G. ; Jones, Sherri M. ; Sivakumaran, Theru A. ; Giersch, Anne B.S. ; Jurado, Sara A. ; Call, Linda M. ; Miller, Constance E. ; Maison, Stéphane F. ; Liberman, M. Charles ; Morton, Cynthia C.Human molecular genetics, 2008-11, Vol.17 (21), p.3426-3434 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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3 |
Material Type: Artigo
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Evaluating the potential role of pleiotropy in Mendelian randomization studiesHemani, Gibran ; Bowden, Jack ; Davey Smith, GeorgeHuman molecular genetics, 2018-08, Vol.27 (R2), p.R195-R208 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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4 |
Material Type: Artigo
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A genome-wide scan for common alleles affecting risk for autismPinto, Dalila ; Regan, Regina ; Magalhaes, Tiago R. ; Abrahams, Brett S. ; Pagnamenta, Alistair T. ; Almeida, Joana ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Brennan, Sean ; Carson, Andrew R. ; Casallo, Guillermo ; Chu, Su H. ; Cochrane, Lynne ; Dawson, Geraldine ; de Jonge, Maretha ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Fernandez, Bridget A. ; Fombonne, Eric ; Freitag, Christine M. ; Glessner, Joseph T. ; Goldberg, Jeremy ; Green, Jonathan ; Heron, Elizabeth A. ; Holt, Richard ; Hughes, Gillian ; Hus, Vanessa ; Kim, Cecilia ; Korvatska, Olena ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Leboyer, Marion ; Leventhal, Bennett L. ; Liu, Xiao-Qing ; Lord, Catherine ; Lotspeich, Linda ; Marshall, Christian R. ; McConachie, Helen ; McMahon, William M. ; Melhem, Nadine M. ; Merikangas, Alison ; Migita, Ohsuke ; Munson, Jeff ; Nelson, Stanley F. ; Noakes, Carolyn ; Noor, Abdul ; Nygren, Gudrun ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Poustka, Annemarie ; Poustka, Fritz ; Prasad, Aparna ; Renshaw, Katy ; Rickaby, Jessica ; Roberts, Wendy ; Roge, Bernadette ; Bierut, Laura J. ; Rice, John P. ; Salt, Jeff ; Sansom, Katherine ; Sato, Daisuke ; Segurado, Ricardo ; Shah, Naisha ; Sheffield, Val C. ; Soorya, Latha ; Stoppioni, Vera ; Tancredi, Raffaella ; Thompson, Ann P. ; Thomson, Susanne ; Tryfon, Ana ; Van Engeland, Herman ; Wang, Kai ; Wang, Zhouzhi ; Wassink, Thomas H. ; Wittemeyer, Kerstin ; Wood, Shawn ; Yaspan, Brian L. ; Zurawiecki, Danielle ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Gallagher, Louise ; Geschwind, Daniel H. ; Gill, Michael ; Haines, Jonathan L. ; Paterson, Andrew D. ; Sutcliffe, James S. ; Szatmari, Peter ; Vicente, Astrid M. ; Wijsman, Ellen M. ; Devlin, Bernie ; Hallmayer, JoachimHuman molecular genetics, 2010-10, Vol.19 (20), p.4072-4082 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Towards clinical utility of polygenic risk scoresLambert, Samuel A ; Abraham, Gad ; Inouye, MichaelHuman molecular genetics, 2019-11, Vol.28 (R2), p.R133-R142 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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6 |
Material Type: Artigo
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Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditionsLiu, Wenfei ; Taso, Orjona ; Wang, Rui ; Bayram, Sevinc ; Graham, Andrew C ; Garcia-Reitboeck, Pablo ; Mallach, Anna ; Andrews, William D ; Piers, Thomas M ; Botia, Juan A ; Pocock, Jennifer M ; Cummings, Damian M ; Hardy, John ; Edwards, Frances A ; Salih, Dervis AHuman molecular genetics, 2020-11, Vol.29 (19), p.3224-3248 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Mendelian randomization: genetic anchors for causal inference in epidemiological studiesDavey Smith, George ; Hemani, GibranHuman molecular genetics, 2014-09, Vol.23 (R1), p.R89-R98 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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8 |
Material Type: Artigo
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Nilotinib reverses loss of dopamine neurons and improves motor behavior via autophagic degradation of [alpha]-synuclein in Parkinson's disease modelsHebron, Michaeline L ; Lonskaya, Irina ; Moussa, Charbel E-HHuman molecular genetics, 2013-08, Vol.22 (16), p.3315-3328 [Periódico revisado por pares]Texto completo disponível |
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9 |
Material Type: Artigo
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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studiesDong, Chengliang ; Wei, Peng ; Jian, Xueqiu ; Gibbs, Richard ; Boerwinkle, Eric ; Wang, Kai ; Liu, XiaomingHuman molecular genetics, 2015-04, Vol.24 (8), p.2125-2137 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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10 |
Material Type: Artigo
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Exon-skipping advances for Duchenne muscular dystrophyEchevarría, Lucía ; Aupy, Philippine ; Goyenvalle, AurélieHuman molecular genetics, 2018-08, Vol.27 (R2), p.R163-R172 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |