33,256 results for Exome

33,256 results for Exome

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      Author / Creator:Miyatake, Satoko ; Koshimizu, Eriko ; Fujita, Atsushi ; Fukai, Ryoko ; Imagawa, Eri ; Ohba, Chihiro ; Kuki, Ichiro ; Nukui, Megumi ; Araki, Atsushi ; Makita, Yoshio ; Ogata, Tsutomu ; Nakashima, Mitsuko ; Tsurusaki, Yoshinori ; Miyake, Noriko ; Saitsu, Hirotomo ; Matsumoto, Naomichi
      Publisher:England: Nature Publishing Group
      Journal title:Journal of human genetics, 2015-04, Vol.60 (4), p.175-182
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      Author / Creator:Belkadi, Aziz ; Bolze, Alexandre ; Itan, Yuval ; Cobat, Aurélie ; Vincent, Quentin B. ; Antipenko, Alexander ; Shang, Lei ; Boisson, Bertrand ; Casanova, Jean-Laurent ; Abel, Laurent
      Publisher:United States: National Academy of Sciences
      Journal title:Proceedings of the National Academy of Sciences - PNAS, 2015-04, Vol.112 (17), p.5473-5478
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      Author / Creator:Baldridge, Dustin ; Heeley, Jennifer ; Vineyard, Marisa ; Manwaring, Linda ; Toler, Tomi L. ; Fassi, Emily ; Fiala, Elise ; Brown, Sarah ; Goss, Charles W. ; Willing, Marcia ; Grange, Dorothy K. ; Kozel, Beth A. ; Shinawi, Marwan
      Publisher:New York: Nature Publishing Group US
      Journal title:Genetics in medicine, 2017-09, Vol.19 (9), p.1040-1048
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      Author / Creator:Liu, Pengfei ; Meng, Linyan ; Normand, Elizabeth A ; Xia, Fan ; Song, Xiaofei ; Ghazi, Andrew ; Rosenfeld, Jill ; Magoulas, Pilar L ; Braxton, Alicia ; Ward, Patricia ; Dai, Hongzheng ; Yuan, Bo ; Bi, Weimin ; Xiao, Rui ; Wang, Xia ; Chiang, Theodore ; Vetrini, Francesco ; He, Weimin ; Cheng, Hanyin ; Dong, Jie ; Gijavanekar, Charul ; Benke, Paul J ; Bernstein, Jonathan A ; Eble, Tanya ; Eroglu, Yasemen ; Erwin, Deanna ; Escobar, Luis ; Gibson, James B ; Gripp, Karen ; Kleppe, Soledad ; Koenig, Mary K ; Lewis, Andrea M ; Natowicz, Marvin ; Mancias, Pedro ; Minor, LaKeesha ; Scaglia, Fernando ; Schaaf, Christian P ; Streff, Haley ; Vernon, Hilary ; Uhles, Crescenda L ; Zackai, Elaine H ; Wu, Nan ; Sutton, V. Reid ; Beaudet, Arthur L ; Muzny, Donna ; Gibbs, Richard A ; Posey, Jennifer E ; Lalani, Seema ; Shaw, Chad ; Eng, Christine M ; Lupski, James R ; Yang, Yaping
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2019-06, Vol.380 (25), p.2478-2480
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      Author / Creator:Peloso, Gina M ; Wang, Xiao ; Alam, Dewan ; Arveiler, Dominique ; Ballantyne, Christie M ; Bis, Joshua C ; Boerwinkle, Eric ; Bork-Jensen, Jette ; Brandslund, Ivan ; Busonero, Fabio ; Caulfield, Mark J ; Chasman, Daniel I ; Chen, Yii-Der Ida ; Christensen, Cramer ; Cucca, Francesco ; Cupples, L Adrienne ; Davies, Gail ; Deary, Ian J ; Dubé, Marie-Pierre ; Ford, Ian ; Fornage, Myriam ; Fuster, Valentin ; Ganesh, Santhi K ; Giulianini, Franco ; Grarup, Niels ; Groop, Leif ; Hansen, Torben ; Harris, Tamara B ; Hayward, Caroline ; Hveem, Kristian ; Jabeen, Sehrish ; Jackson, Anne U ; Jensen, Gorm B ; Jørgensen, Marit E ; Kamstrup, Pia R ; Kanoni, Stavroula ; Khera, Amit V ; Koistinen, Heikki A ; Kooperberg, Charles ; Kuusisto, Johanna ; Laakso, Markku ; Langsted, Anne ; Linneberg, Allan ; Loos, Ruth J F ; Lu, Yingchang ; Malarstig, Anders ; Manichaikul, Ani ; Manning, Alisa K ; Marouli, Eirini ; Maschio, Andrea ; Melander, Olle ; Morrison, Alanna C ; Mulas, Antonella ; Neville, Matt J ; Nielsen, Jonas B ; Nordestgaard, Børge G ; Mehran, Roxana ; O'Donnell, Christoper J ; Molony, Cliona M ; Palmer, Colin N A ; Pasko, Dorota ; Peters, Annette ; Pisinger, Charlotta ; Polasek, Ozren ; Poulter, Neil ; Psaty, Bruce M ; Rasheed, Asif ; Reiner, Alex P ; Robertson, Neil R ; Rudan, Igor ; Salomaa, Veikko ; Sanna, Serena ; Schmidt, Ellen M ; Sever, Peter ; Sevilla, Raquel S ; Smith, Blair H ; Speliotes, Elizabeth K ; Stirrups, Kathleen E ; Stitziel, Nathan ; Surendran, Praveen ; Tall, Alan R ; Tsao, Philip S ; van Zuydam, Natalie R ; Varbo, Anette ; Waldenberger, Melanie ; Wareham, Nick J ; Weeke, Peter E ; Wessel, Jennifer ; Wilson, James G ; Wilson, Peter W F ; Yaghootkar, Hanieh ; Young, Robin ; Zeggini, Eleftheria ; Zhang, Weihua ; Zhou, Wei ; Howson, Joanna M M ; McCarthy, Mark I ; Cowan, Chad A ; Deloukas, Panos ; Kathiresan, Sekar
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2017-12, Vol.49 (12), p.1758-1766
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      Author / Creator:Ong, Choon Kiat ; Subimerb, Chutima ; Pairojkul, Chawalit ; Wongkham, Sopit ; Cutcutache, Ioana ; Yu, Willie ; McPherson, John R ; Allen, George E ; Ng, Cedric Chuan Young ; Wong, Bernice Huimin ; Myint, Swe Swe ; Rajasegaran, Vikneswari ; Heng, Hong Lee ; Gan, Anna ; Zang, Zhi Jiang ; Wu, Yingting ; Wu, Jeanie ; Lee, Ming Hui ; Huang, DaChuan ; Ong, Pauline ; Chan-on, Waraporn ; Cao, Yun ; Qian, Chao-Nan ; Lim, Kiat Hon ; Ooi, Aikseng ; Dykema, Karl ; Furge, Kyle ; Kukongviriyapan, Veerapol ; Sripa, Banchob ; Wongkham, Chaisiri ; Yongvanit, Puangrat ; Futreal, P Andrew ; Bhudhisawasdi, Vajarabhongsa ; Rozen, Steve ; Tan, Patrick ; Teh, Bin Tean
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2012-06, Vol.44 (6), p.690-693
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      Author / Creator:Backman, Joshua D. ; Li, Alexander H. ; Marcketta, Anthony ; Sun, Dylan ; Mbatchou, Joelle ; Kessler, Michael D. ; Benner, Christian ; Liu, Daren ; Locke, Adam E. ; Balasubramanian, Suganthi ; Yadav, Ashish ; Banerjee, Nilanjana ; Gillies, Christopher E. ; Damask, Amy ; Liu, Simon ; Bai, Xiaodong ; Hawes, Alicia ; Maxwell, Evan ; Gurski, Lauren ; Watanabe, Kyoko ; Kosmicki, Jack A. ; Rajagopal, Veera ; Mighty, Jason ; Jones, Marcus ; Mitnaul, Lyndon ; Stahl, Eli ; Coppola, Giovanni ; Jorgenson, Eric ; Habegger, Lukas ; Salerno, William J. ; Shuldiner, Alan R. ; Lotta, Luca A. ; Overton, John D. ; Cantor, Michael N. ; Reid, Jeffrey G. ; Yancopoulos, George ; Kang, Hyun M. ; Marchini, Jonathan ; Baras, Aris ; Abecasis, Gonçalo R. ; Ferreira, Manuel A. R.
      Publisher:London: Nature Publishing Group UK
      Journal title:Nature (London), 2021-11, Vol.599 (7886), p.628-634
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      Author / Creator:Huang, Jian ; Deng, Qing ; Wang, Qun ; Li, Kun-Yu ; Dai, Ji-Hong ; Li, Niu ; Zhu, Zhi-Dong ; Zhou, Bo ; Liu, Xiao-Yan ; Liu, Rui-Fang ; Fei, Qian-Lan ; Chen, Hui ; Cai, Bing ; Zhou, Boping ; Xiao, Hua-Sheng ; Qin, Lun-Xiu ; Han, Ze-Guang
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2012-10, Vol.44 (10), p.1117-1121
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      Author / Creator:Stachler, Matthew D ; Taylor-Weiner, Amaro ; Peng, Shouyong ; McKenna, Aaron ; Agoston, Agoston T ; Odze, Robert D ; Davison, Jon M ; Nason, Katie S ; Loda, Massimo ; Leshchiner, Ignaty ; Stewart, Chip ; Stojanov, Petar ; Seepo, Sara ; Lawrence, Michael S ; Ferrer-Torres, Daysha ; Lin, Jules ; Chang, Andrew C ; Gabriel, Stacey B ; Lander, Eric S ; Beer, David G ; Getz, Gad ; Carter, Scott L ; Bass, Adam J
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2015-09, Vol.47 (9), p.1047-1055
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      Author / Creator:Pugh, Trevor J. ; Weeraratne, Shyamal Dilhan ; Archer, Tenley C. ; Pomeranz Krummel, Daniel A. ; Auclair, Daniel ; Bochicchio, James ; Carneiro, Mauricio O. ; Carter, Scott L. ; Cibulskis, Kristian ; Erlich, Rachel L. ; Greulich, Heidi ; Lawrence, Michael S. ; Lennon, Niall J. ; McKenna, Aaron ; Meldrim, James ; Ramos, Alex H. ; Ross, Michael G. ; Russ, Carsten ; Shefler, Erica ; Sivachenko, Andrey ; Sogoloff, Brian ; Stojanov, Petar ; Tamayo, Pablo ; Mesirov, Jill P. ; Amani, Vladimir ; Teider, Natalia ; Sengupta, Soma ; Francois, Jessica Pierre ; Northcott, Paul A. ; Taylor, Michael D. ; Yu, Furong ; Crabtree, Gerald R. ; Kautzman, Amanda G. ; Gabriel, Stacey B. ; Getz, Gad ; Jäger, Natalie ; Jones, David T. W. ; Lichter, Peter ; Pfister, Stefan M. ; Roberts, Thomas M. ; Meyerson, Matthew ; Pomeroy, Scott L. ; Cho, Yoon-Jae
      Publisher:London: Nature Publishing Group UK
      Journal title:Nature (London), 2012-08, Vol.488 (7409), p.106-110
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      Author / Creator:Biesecker, Leslie G ; Green, Robert C
      Publisher:Waltham, MA: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2014-06, Vol.370 (25), p.2418-2425
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      Author / Creator:Groopman, Emily E ; Marasa, Maddalena ; Cameron-Christie, Sophia ; Petrovski, Slavé ; Aggarwal, Vimla S ; Milo-Rasouly, Hila ; Li, Yifu ; Zhang, Junying ; Nestor, Jordan ; Krithivasan, Priya ; Lam, Wan Yee ; Mitrotti, Adele ; Piva, Stacy ; Kil, Byum H ; Chatterjee, Debanjana ; Reingold, Rachel ; Bradbury, Drew ; DiVecchia, Michael ; Snyder, Holly ; Mu, Xueru ; Mehl, Karla ; Balderes, Olivia ; Fasel, David A ; Weng, Chunhua ; Radhakrishnan, Jai ; Canetta, Pietro ; Appel, Gerald B ; Bomback, Andrew S ; Ahn, Wooin ; Uy, Natalie S ; Alam, Shumyle ; Cohen, David J ; Crew, Russell J ; Dube, Geoffrey K ; Rao, Maya K ; Kamalakaran, Sitharthan ; Copeland, Brett ; Ren, Zhong ; Bridgers, Joshua ; Malone, Colin D ; Mebane, Caroline M ; Dagaonkar, Neha ; Fellström, Bengt C ; Haefliger, Carolina ; Mohan, Sumit ; Sanna-Cherchi, Simone ; Kiryluk, Krzysztof ; Fleckner, Jan ; March, Ruth ; Platt, Adam ; Goldstein, David B ; Gharavi, Ali G
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2019-01, Vol.380 (2), p.142-151
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      Author / Creator:Mercader, Josep M. ; Udler, Miriam S. ; Mahajan, Anubha ; Caulkins, Lizz ; Barajas-Olmos, Francisco ; Blackwell, Thomas W. ; Boerwinkle, Eric ; Brody, Jennifer A. ; Chen, Siying ; Contreras-Cubas, Cecilia ; Córdova, Emilio ; Correa, Adolfo ; Cortes, Maria ; Dolan, Lawrence ; Drews, Kimberly L. ; Gabriel, Stacey ; Garay-Sevilla, Maria Eugenia ; García-Ortiz, Humberto ; Gross, Myron ; Heard-Costa, Nancy L. ; Jackson, Anne U. ; Jørgensen, Marit E. ; Kang, Hyun Min ; Kim, Bong-Jo ; Lyssenko, Valeriya ; Manning, Alisa K. ; Marcketta, Anthony ; Martínez-Hernández, Angélica ; Matsuo, Karen ; Mayer-Davis, Elizabeth ; Mohlke, Karen L. ; Morrison, Alanna C. ; Ndungu, Anne ; Ng, Maggie C. Y. ; O’Dushlaine, Colm ; Payne, Anthony J. ; Pihoker, Catherine ; Preuss, Michael ; Psaty, Bruce M. ; Reiner, Alexander P. ; Robertson, Neil R. ; Santoro, Nicola ; Schurmann, Claudia ; So, Wing Yee ; Soberón, Xavier ; Thameem, Farook ; Tomlinson, Brian ; van Dam, Rob M. ; Vujkovic, Marijana ; Witte, Daniel R. ; Barzilai, Nir ; Bonnycastle, Lori L. ; Bowden, Donald W. ; Chambers, John C. ; Cheng, Ching-Yu ; de Vries, Paul S. ; Glaser, Benjamin ; Groop, Leif ; Kooner, Jaspal Singh ; Kwak, Soo Heon ; Lehman, Donna M. ; Spector, Timothy D. ; Tai, E. Shyong ; Tuomilehto, Jaakko ; Wilson, James G. ; Burke, Brian ; Carey, David J. ; Chan, Juliana C. N. ; Dupuis, Josée ; Frossard, Philippe ; Heckbert, Susan R. ; Hwang, Mi Yeong ; Kim, Young Jin ; Kirchner, H. Lester ; Lee, Jong-Young ; Lee, Juyoung ; Loos, Ruth J. F. ; Ma, Ronald C. W. ; O’Donnell, Christopher J. ; Park, Kyong Soo ; Rasheed, Asif ; Saleheen, Danish ; Sim, Xueling ; Hanis, Craig L. ; Orozco, Lorena ; Dewey, Frederick E. ; Baras, Aris ; Gieger, Christian ; Meitinger, Thomas ; Strauch, Konstantin ; Lange, Leslie ; Hansen, Torben ; Pedersen, Oluf ; Dabelea, Dana ; Bell, Graeme I. ; Sladek, Rob ; Rich, Steve S. ; Rotter, Jerome I. ; Altshuler, David ; Boehnke, Michael
      Publisher:London: Nature Publishing Group UK
      Journal title:Nature (London), 2019-06, Vol.570 (7759), p.71-76
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      Author / Creator:Majewski, Jacek ; Schwartzentruber, Jeremy ; Lalonde, Emilie ; Montpetit, Alexandre ; Jabado, Nada
      Publisher:London: BMJ Publishing Group Ltd
      Journal title:Journal of medical genetics, 2011-09, Vol.48 (9), p.580-589
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      Author / Creator:Retterer, Kyle ; Juusola, Jane ; Cho, Megan T. ; Vitazka, Patrik ; Millan, Francisca ; Gibellini, Federica ; Vertino-Bell, Annette ; Smaoui, Nizar ; Neidich, Julie ; Monaghan, Kristin G. ; McKnight, Dianalee ; Bai, Renkui ; Suchy, Sharon ; Friedman, Bethany ; Tahiliani, Jackie ; Pineda-Alvarez, Daniel ; Richard, Gabriele ; Brandt, Tracy ; Haverfield, Eden ; Chung, Wendy K. ; Bale, Sherri
      Publisher:New York: Elsevier Inc
      Journal title:Genetics in medicine, 2016-07, Vol.18 (7), p.696-704
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      Author / Creator:Zech, Michael ; Jech, Robert ; Boesch, Sylvia ; Škorvánek, Matej ; Weber, Sandrina ; Wagner, Matias ; Zhao, Chen ; Jochim, Angela ; Necpál, Ján ; Vill, Katharina ; Stoklosa, Malgorzata ; Krenn, Martin ; Grunwald, Stephan ; Bock-Bierbaum, Tobias ; Fečíková, Anna ; Roth, Jan ; Příhodová, Iva ; Adamovičová, Miriam ; Ulmanová, Olga ; Bechyně, Karel ; Danhofer, Pavlína ; Veselý, Branislav ; Haň, Vladimír ; Gdovinová, Zuzana ; Mantel, Tobias ; Meindl, Tobias ; Sitzberger, Alexandra ; Schröder, Sebastian ; Blaschek, Astrid ; Roser, Timo ; Bonfert, Michaela V ; Haberlandt, Edda ; Plecko, Barbara ; Berweck, Steffen ; Herberhold, Thomas ; Langguth, Berthold ; Švantnerová, Jana ; Minár, Michal ; Ramos-Rivera, Gonzalo Alonso ; Wojcik, Monica H ; Pajusalu, Sander ; Õunap, Katrin ; Pölsler, Laura ; Milenkovic, Ivan ; Laccone, Franco ; Pilshofer, Veronika ; Colombo, Roberto ; Patzer, Steffi ; Iuso, Arcangela ; Vera, Julia ; Troncoso, Monica ; Fang, Fang ; Wilbert, Friederike ; Eckenweiler, Matthias ; Graf, Elisabeth ; Westphal, Dominik S ; Riedhammer, Korbinian M ; Alhaddad, Bader ; Berutti, Riccardo ; Strom, Tim M ; Hecht, Martin ; Baumann, Matthias ; Wolf, Marc ; Telegrafi, Aida ; Person, Richard E ; Zamora, Francisca Millan ; Henderson, Lindsay B ; Musacchio, Thomas ; Volkmann, Jens ; Szuto, Anna ; Becker, Jessica ; Cremer, Kirsten ; Sycha, Thomas ; Zimprich, Fritz ; Kraus, Verena ; Makowski, Christine ; Gonzalez-Alegre, Pedro ; Bardakjian, Tanya M ; Ozelius, Laurie J ; Vetro, Annalisa ; Guerrini, Renzo ; Maier, Esther ; Borggraefe, Ingo ; Kuster, Alice ; Hackenberg, Annette ; Steinfeld, Robert ; Assmann, Birgit ; Staufner, Christian ; Opladen, Thomas ; Růžička, Evžen ; Cohn, Ronald D ; Dyment, David ; Chung, Wendy K ; Engels, Hartmut ; Ploski, Rafal ; Daumke, Oliver ; Haslinger, Bernhard ; Mall, Volker ; Oexle, Konrad ; Winkelmann, Juliane
      Publisher:England: Elsevier Ltd
      Journal title:Lancet neurology, 2020-11, Vol.19 (11), p.908-918
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      Author / Creator:Yang, Yaping ; Muzny, Donna M ; Reid, Jeffrey G ; Bainbridge, Matthew N ; Willis, Alecia ; Ward, Patricia A ; Braxton, Alicia ; Beuten, Joke ; Xia, Fan ; Niu, Zhiyv ; Hardison, Matthew ; Person, Richard ; Bekheirnia, Mir Reza ; Leduc, Magalie S ; Kirby, Amelia ; Pham, Peter ; Scull, Jennifer ; Wang, Min ; Ding, Yan ; Plon, Sharon E ; Lupski, James R ; Beaudet, Arthur L ; Gibbs, Richard A ; Eng, Christine M
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2013-10, Vol.369 (16), p.1502-1511
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      Author / Creator:Clark, Michael J ; Chen, Rui ; Lam, Hugo Y K ; Karczewski, Konrad J ; Chen, Rong ; Euskirchen, Ghia ; Butte, Atul J ; Snyder, Michael
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature biotechnology, 2011-10, Vol.29 (10), p.908-914
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      Author / Creator:Sanders, Stephan J. ; Murtha, Michael T. ; Gupta, Abha R. ; Murdoch, John D. ; Raubeson, Melanie J. ; Willsey, A. Jeremy ; Ercan-Sencicek, A. Gulhan ; DiLullo, Nicholas M. ; Parikshak, Neelroop N. ; Stein, Jason L. ; Walker, Michael F. ; Ober, Gordon T. ; Teran, Nicole A. ; Song, Youeun ; El-Fishawy, Paul ; Murtha, Ryan C. ; Choi, Murim ; Overton, John D. ; Bjornson, Robert D. ; Carriero, Nicholas J. ; Meyer, Kyle A. ; Bilguvar, Kaya ; Mane, Shrikant M. ; Šestan, Nenad ; Lifton, Richard P. ; Günel, Murat ; Roeder, Kathryn ; Geschwind, Daniel H. ; Devlin, Bernie ; State, Matthew W.
      Publisher:London: Nature Publishing Group UK
      Journal title:Nature (London), 2012-05, Vol.485 (7397), p.237-241
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      Author / Creator:Yu, Timothy W. ; Chahrour, Maria H. ; Coulter, Michael E. ; Jiralerspong, Sarn ; Okamura-Ikeda, Kazuko ; Ataman, Bulent ; Schmitz-Abe, Klaus ; Harmin, David A. ; Adli, Mazhar ; Malik, Athar N. ; D’Gama, Alissa M. ; Lim, Elaine T. ; Sanders, Stephan J. ; Mochida, Ganesh H. ; Partlow, Jennifer N. ; Sunu, Christine M. ; Felie, Jillian M. ; Rodriguez, Jacqueline ; Nasir, Ramzi H. ; Ware, Janice ; Joseph, Robert M. ; Hill, R. Sean ; Kwan, Benjamin Y. ; Al-Saffar, Muna ; Mukaddes, Nahit M. ; Hashmi, Asif ; Balkhy, Soher ; Gascon, Generoso G. ; Hisama, Fuki M. ; LeClair, Elaine ; Poduri, Annapurna ; Oner, Ozgur ; Al-Saad, Samira ; Al-Awadi, Sadika A. ; Bastaki, Laila ; Ben-Omran, Tawfeg ; Teebi, Ahmad S. ; Al-Gazali, Lihadh ; Eapen, Valsamma ; Stevens, Christine R. ; Rappaport, Leonard ; Gabriel, Stacey B. ; Markianos, Kyriacos ; State, Matthew W. ; Greenberg, Michael E. ; Taniguchi, Hisaaki ; Braverman, Nancy E. ; Morrow, Eric M. ; Walsh, Christopher A.
      Publisher:United States: Elsevier Inc
      Journal title:Neuron (Cambridge, Mass.), 2013-01, Vol.77 (2), p.259-273
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