10,514 results for Mutation,+Missense

10,514 results for Mutation,+Missense

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    Author / Creator:Lim, Elaine T ; Uddin, Mohammed ; De Rubeis, Silvia ; Chan, Yingleong ; Kamumbu, Anne S ; Zhang, Xiaochang ; D'Gama, Alissa M ; Kim, Sonia N ; Hill, Robert Sean ; Goldberg, Arthur P ; Poultney, Christopher ; Minshew, Nancy J ; Kushima, Itaru ; Aleksic, Branko ; Ozaki, Norio ; Parellada, Mara ; Arango, Celso ; Penzol, Maria J ; Carracedo, Angel ; Kolevzon, Alexander ; Hultman, Christina M ; Weiss, Lauren A ; Fromer, Menachem ; Chiocchetti, Andreas G ; Freitag, Christine M ; Church, George M ; Scherer, Stephen W ; Buxbaum, Joseph D ; Walsh, Christopher A
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature neuroscience, 2017-09, Vol.20 (9), p.1217-1224
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    Author / Creator:De Rubeis, Silvia ; He, Xin ; Goldberg, Arthur P. ; Poultney, Christopher S. ; Samocha, Kaitlin ; Ercument Cicek, A. ; Kou, Yan ; Liu, Li ; Fromer, Menachem ; Walker, Susan ; Singh, Tarjinder ; Klei, Lambertus ; Kosmicki, Jack ; Fu, Shih-Chen ; Aleksic, Branko ; Biscaldi, Monica ; Bolton, Patrick F. ; Brownfeld, Jessica M. ; Cai, Jinlu ; Campbell, Nicholas G. ; Carracedo, Angel ; Chahrour, Maria H. ; Chiocchetti, Andreas G. ; Coon, Hilary ; Crawford, Emily L. ; Crooks, Lucy ; Curran, Sarah R. ; Dawson, Geraldine ; Duketis, Eftichia ; Fernandez, Bridget A. ; Gallagher, Louise ; Geller, Evan ; Guter, Stephen J. ; Sean Hill, R. ; Ionita-Laza, Iuliana ; Jimenez Gonzalez, Patricia ; Kilpinen, Helena ; Klauck, Sabine M. ; Kolevzon, Alexander ; Lee, Irene ; Lei, Jing ; Lehtimäki, Terho ; Lin, Chiao-Feng ; Ma’ayan, Avi ; Marshall, Christian R. ; McInnes, Alison L. ; Neale, Benjamin ; Owen, Michael J. ; Ozaki, Norio ; Parellada, Mara ; Parr, Jeremy R. ; Purcell, Shaun ; Puura, Kaija ; Rajagopalan, Deepthi ; Rehnström, Karola ; Reichenberg, Abraham ; Sabo, Aniko ; Sachse, Michael ; Sanders, Stephan J. ; Schafer, Chad ; Schulte-Rüther, Martin ; Skuse, David ; Stevens, Christine ; Szatmari, Peter ; Tammimies, Kristiina ; Valladares, Otto ; Voran, Annette ; Wang, Li-San ; Weiss, Lauren A. ; Jeremy Willsey, A. ; Yu, Timothy W. ; Yuen, Ryan K. C. ; Cook, Edwin H. ; Freitag, Christine M. ; Gill, Michael ; Hultman, Christina M. ; Lehner, Thomas ; Palotie, Aarno ; Schellenberg, Gerard D. ; Sklar, Pamela ; State, Matthew W. ; Sutcliffe, James S. ; Walsh, Christopher A. ; Scherer, Stephen W. ; Zwick, Michael E. ; Barrett, Jeffrey C. ; Cutler, David J. ; Roeder, Kathryn ; Devlin, Bernie ; Daly, Mark J. ; Buxbaum, Joseph D.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2014-11, Vol.515 (7526), p.209-215
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    Author / Creator:Gordon, Christopher T ; Xue, Shifeng ; Yigit, Gökhan ; Filali, Hicham ; Chen, Kelan ; Rosin, Nadine ; Yoshiura, Koh-ichiro ; Oufadem, Myriam ; Beck, Tamara J ; McGowan, Ruth ; Magee, Alex C ; Altmüller, Janine ; Dion, Camille ; Thiele, Holger ; Gurzau, Alexandra D ; Nürnberg, Peter ; Meschede, Dieter ; Mühlbauer, Wolfgang ; Okamoto, Nobuhiko ; Varghese, Vinod ; Irving, Rachel ; Sigaudy, Sabine ; Williams, Denise ; Ahmed, S Faisal ; Bonnard, Carine ; Kong, Mung Kei ; Ratbi, Ilham ; Fejjal, Nawfal ; Fikri, Meriem ; Elalaoui, Siham Chafai ; Reigstad, Hallvard ; Bole-Feysot, Christine ; Nitschké, Patrick ; Ragge, Nicola ; Lévy, Nicolas ; Tunçbilek, Gökhan ; Teo, Audrey S M ; Cunningham, Michael L ; Sefiani, Abdelaziz ; Kayserili, Hülya ; Murphy, James M ; Chatdokmaiprai, Chalermpong ; Hillmer, Axel M ; Wattanasirichaigoon, Duangrurdee ; Lyonnet, Stanislas ; Magdinier, Frédérique ; Javed, Asif ; Blewitt, Marnie E ; Amiel, Jeanne ; Wollnik, Bernd ; Reversade, Bruno
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2017-02, Vol.49 (2), p.249-255
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    Author / Creator:Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina ; Martinez, Ariel F. ; Paperna, Tamar ; Cohen, Lior ; Smeland, Marie F. ; Whalen, Sandra ; Heide, Solveig ; Keren, Boris ; Terhal, Pauline ; Irving, Melita ; Takaku, Motoki ; Roberts, John D. ; Petrovich, Robert M. ; Schrier Vergano, Samantha A. ; Kenney, Amy ; Hove, Hanne ; DeChene, Elizabeth ; Quinonez, Shane C. ; Colin, Estelle ; Ziegler, Alban ; Rumple, Melissa ; Jain, Mahim ; Monteil, Danielle ; Roeder, Elizabeth R. ; Nugent, Kimberly ; van Haeringen, Arie ; Gambello, Michael ; Santani, Avni ; Medne, Līvija ; Krock, Bryan ; Skraban, Cara M. ; Zackai, Elaine H. ; Dubbs, Holly A. ; Smol, Thomas ; Ghoumid, Jamal ; Parker, Michael J. ; Wright, Michael ; Turnpenny, Peter ; Clayton-Smith, Jill ; Metcalfe, Kay ; Kurumizaka, Hitoshi ; Gelb, Bruce D. ; Baris Feldman, Hagit ; Campeau, Philippe M. ; Muenke, Maximilian ; Wade, Paul A. ; Lachlan, Katherine
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-02, Vol.22 (2), p.389-397
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    Author / Creator:Waxman, Stephen G, Prof ; Merkies, Ingemar S J, MD ; Gerrits, Monique M, PhD ; Dib-Hajj, Sulayman D, PhD ; Lauria, Giuseppe, Prof ; Cox, James J, PhD ; Wood, John N, Prof ; Woods, C Geoffrey, Prof ; Drenth, Joost P H, Prof ; Faber, Catharina G, Prof
    Publisher:England: Elsevier Ltd
    Journal title:Lancet neurology, 2014-11, Vol.13 (11), p.1152-1160
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    Author / Creator:Geisheker, Madeleine R ; Heymann, Gabriel ; Wang, Tianyun ; Coe, Bradley P ; Turner, Tychele N ; Stessman, Holly A F ; Hoekzema, Kendra ; Kvarnung, Malin ; Shaw, Marie ; Friend, Kathryn ; Liebelt, Jan ; Barnett, Christopher ; Thompson, Elizabeth M ; Haan, Eric ; Guo, Hui ; Anderlid, Britt-Marie ; Nordgren, Ann ; Lindstrand, Anna ; Vandeweyer, Geert ; Alberti, Antonino ; Avola, Emanuela ; Vinci, Mirella ; Giusto, Stefania ; Pramparo, Tiziano ; Pierce, Karen ; Nalabolu, Srinivasa ; Michaelson, Jacob J ; Sedlacek, Zdenek ; Santen, Gijs W E ; Peeters, Hilde ; Hakonarson, Hakon ; Courchesne, Eric ; Romano, Corrado ; Kooy, R Frank ; Bernier, Raphael A ; Nordenskjöld, Magnus ; Gecz, Jozef ; Xia, Kun ; Zweifel, Larry S ; Eichler, Evan E
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature neuroscience, 2017-08, Vol.20 (8), p.1043-1051
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    Author / Creator:Funayama, Manabu, PhD ; Ohe, Kenji, MD ; Amo, Taku, PhD ; Furuya, Norihiko, PhD ; Yamaguchi, Junji, MSc ; Saiki, Shinji, MD ; Li, Yuanzhe, MD ; Ogaki, Kotaro, MD ; Ando, Maya, MD ; Yoshino, Hiroyo, PhD ; Tomiyama, Hiroyuki, MD ; Nishioka, Kenya, MD ; Hasegawa, Kazuko, MD ; Saiki, Hidemoto, MD ; Satake, Wataru, MD ; Mogushi, Kaoru, PhD ; Sasaki, Ryogen, MD ; Kokubo, Yasumasa, Prof ; Kuzuhara, Shigeki, Prof ; Toda, Tatsushi, Prof ; Mizuno, Yoshikuni, Prof ; Uchiyama, Yasuo, Prof ; Ohno, Kinji, Prof ; Hattori, Nobutaka, Prof
    Publisher:England: Elsevier Ltd
    Journal title:Lancet neurology, 2015-03, Vol.14 (3), p.274-282
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    Author / Creator:Iqbal, Sumaiya ; Pérez-Palma, Eduardo ; Jespersen, Jakob B. ; May, Patrick ; Hoksza, David ; Heyne, Henrike O. ; Ahmed, Shehab S. ; Rifat, Zaara T. ; Rahman, M. Sohel ; Lage, Kasper ; Palotie, Aarno ; Cottrell, Jeffrey R. ; Wagner, Florence F. ; Daly, Mark J. ; Campbell, Arthur J. ; Lal, Dennis
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-11, Vol.117 (45), p.28201-28211
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    Author / Creator:Walerych, Dawid ; Lisek, Kamil ; Sommaggio, Roberta ; Piazza, Silvano ; Ciani, Yari ; Dalla, Emiliano ; Rajkowska, Katarzyna ; Gaweda-Walerych, Katarzyna ; Ingallina, Eleonora ; Tonelli, Claudia ; Morelli, Marco J. ; Amato, Angela ; Eterno, Vincenzo ; Zambelli, Alberto ; Rosato, Antonio ; Amati, Bruno ; Wiśniewski, Jacek R. ; Del Sal, Giannino
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature cell biology, 2016-08, Vol.18 (8), p.897-909
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    Author / Creator:Yum, Seoyun ; Li, Minghao ; Fang, Yan ; Chen, Zhijian J.
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-04, Vol.118 (14), p.1-9
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    Author / Creator:Nakanishi, Moe ; Nomura, Jun ; Ji, Xiao ; Tamada, Kota ; Arai, Takashi ; Takahashi, Eiki ; Bućan, Maja ; Takumi, Toru
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2017-08, Vol.13 (8), p.e1006940-e1006940
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    Author / Creator:Zhou, Yitian ; Mkrtchian, Souren ; Kumondai, Masaki ; Hiratsuka, Masahiro ; Lauschke, Volker M.
    Publisher:London: Nature Publishing Group UK
    Journal title:The pharmacogenomics journal, 2019-04, Vol.19 (2), p.115-126
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    Author / Creator:Buel, Gwen R. ; Walters, Kylie J.
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature structural & molecular biology, 2022-01, Vol.29 (1), p.1-2
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    Author / Creator:Beck, David B ; Ferrada, Marcela A ; Sikora, Keith A ; Ombrello, Amanda K ; Collins, Jason C ; Pei, Wuhong ; Balanda, Nicholas ; Ross, Daron L ; Ospina Cardona, Daniela ; Wu, Zhijie ; Patel, Bhavisha ; Manthiram, Kalpana ; Groarke, Emma M ; Gutierrez-Rodrigues, Fernanda ; Hoffmann, Patrycja ; Rosenzweig, Sofia ; Nakabo, Shuichiro ; Dillon, Laura W ; Hourigan, Christopher S ; Tsai, Wanxia L ; Gupta, Sarthak ; Carmona-Rivera, Carmelo ; Asmar, Anthony J ; Xu, Lisha ; Oda, Hirotsugu ; Goodspeed, Wendy ; Barron, Karyl S ; Nehrebecky, Michele ; Jones, Anne ; Laird, Ryan S ; Deuitch, Natalie ; Rowczenio, Dorota ; Rominger, Emily ; Wells, Kristina V ; Lee, Chyi-Chia R ; Wang, Weixin ; Trick, Megan ; Mullikin, James ; Wigerblad, Gustaf ; Brooks, Stephen ; Dell’Orso, Stefania ; Deng, Zuoming ; Chae, Jae J ; Dulau-Florea, Alina ; Malicdan, May C.V ; Novacic, Danica ; Colbert, Robert A ; Kaplan, Mariana J ; Gadina, Massimo ; Savic, Sinisa ; Lachmann, Helen J ; Abu-Asab, Mones ; Solomon, Benjamin D ; Retterer, Kyle ; Gahl, William A ; Burgess, Shawn M ; Aksentijevich, Ivona ; Young, Neal S ; Calvo, Katherine R ; Werner, Achim ; Kastner, Daniel L ; Grayson, Peter C
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2020-12, Vol.383 (27), p.2628-2638
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    Author / Creator:Dorling, Leila ; Carvalho, Sara ; Allen, Jamie ; González-Neira, Anna ; Luccarini, Craig ; Wahlström, Cecilia ; Pooley, Karen A ; Parsons, Michael T ; Fortuno, Cristina ; Wang, Qin ; Bolla, Manjeet K ; Dennis, Joe ; Keeman, Renske ; Alonso, M Rosario ; Álvarez, Nuria ; Herraez, Belen ; Fernandez, Victoria ; Núñez-Torres, Rocio ; Osorio, Ana ; Valcich, Jeanette ; Li, Minerva ; Törngren, Therese ; Harrington, Patricia A ; Baynes, Caroline ; Conroy, Don M ; Decker, Brennan ; Fachal, Laura ; Mavaddat, Nasim ; Ahearn, Thomas ; Aittomäki, Kristiina ; Antonenkova, Natalia N ; Arnold, Norbert ; Arveux, Patrick ; Ausems, Margreet G E M ; Auvinen, Päivi ; Becher, Heiko ; Beckmann, Matthias W ; Behrens, Sabine ; Bermisheva, Marina ; Białkowska, Katarzyna ; Blomqvist, Carl ; Bogdanova, Natalia V ; Bogdanova-Markov, Nadja ; Bojesen, Stig E ; Bonanni, Bernardo ; Børresen-Dale, Anne-Lise ; Brauch, Hiltrud ; Bremer, Michael ; Briceno, Ignacio ; Brüning, Thomas ; Burwinkel, Barbara ; Cameron, David A ; Camp, Nicola J ; Campbell, Archie ; Carracedo, Angel ; Castelao, Jose E ; Cessna, Melissa H ; Chanock, Stephen J ; Christiansen, Hans ; Collée, J Margriet ; Cordina-Duverger, Emilie ; Cornelissen, Sten ; Czene, Kamila ; Dörk, Thilo ; Ekici, Arif B ; Engel, Christoph ; Eriksson, Mikael ; Fasching, Peter A ; Figueroa, Jonine ; Flyger, Henrik ; Försti, Asta ; Gabrielson, Marike ; Gago-Dominguez, Manuela ; Georgoulias, Vassilios ; Gil, Fabian ; Giles, Graham G ; Glendon, Gord ; Garcia, Encarna B Gómez ; Alnæs, Grethe I Grenaker ; Guénel, Pascal ; Hadjisavvas, Andreas ; Haeberle, Lothar ; Hahnen, Eric ; Hall, Per ; Hamann, Ute ; Harkness, Elaine F ; Hartikainen, Jaana M ; Hartman, Mikael ; He, Wei ; Heemskerk-Gerritsen, Bernadette A M ; Hillemanns, Peter ; Hogervorst, Frans B L ; Hollestelle, Antoinette ; Ho, Weang Kee ; Hooning, Maartje J ; Howell, Anthony ; Humphreys, Keith ; Idris, Faiza ; Jakubowska, Anna ; Jung, Audrey
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2021-02, Vol.384 (5), p.428-439
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    Author / Creator:Maruyama, Hirofumi ; Morino, Hiroyuki ; Ito, Hidefumi ; Izumi, Yuishin ; Kato, Hidemasa ; Watanabe, Yasuhito ; Kinoshita, Yoshimi ; Kamada, Masaki ; Nodera, Hiroyuki ; Suzuki, Hidenori ; Komure, Osamu ; Matsuura, Shinya ; Kobatake, Keitaro ; Morimoto, Nobutoshi ; Abe, Koji ; Suzuki, Naoki ; Aoki, Masashi ; Kawata, Akihiro ; Hirai, Takeshi ; Kato, Takeo ; Ogasawara, Kazumasa ; Hirano, Asao ; Takumi, Toru ; Kusaka, Hirofumi ; Hagiwara, Koichi ; Kaji, Ryuji ; Kawakami, Hideshi
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2010-05, Vol.465 (7295), p.223-226
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    Author / Creator:Brandes, Nadav ; Goldman, Grant ; Wang, Charlotte H. ; Ye, Chun Jimmie ; Ntranos, Vasilis
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2023-09, Vol.55 (9), p.1512-1522
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    Author / Creator:Wilcox, Naomi ; Dumont, Martine ; González-Neira, Anna ; Carvalho, Sara ; Joly Beauparlant, Charles ; Crotti, Marco ; Luccarini, Craig ; Soucy, Penny ; Dubois, Stéphane ; Nuñez-Torres, Rocio ; Pita, Guillermo ; Gardner, Eugene J. ; Dennis, Joe ; Alonso, M. Rosario ; Álvarez, Nuria ; Baynes, Caroline ; Collin-Deschesnes, Annie Claude ; Desjardins, Sylvie ; Becher, Heiko ; Behrens, Sabine ; Bolla, Manjeet K. ; Castelao, Jose E. ; Chang-Claude, Jenny ; Cornelissen, Sten ; Dörk, Thilo ; Engel, Christoph ; Gago-Dominguez, Manuela ; Guénel, Pascal ; Hadjisavvas, Andreas ; Hahnen, Eric ; Hartman, Mikael ; Herráez, Belén ; Jung, Audrey ; Keeman, Renske ; Kiechle, Marion ; Li, Jingmei ; Loizidou, Maria A. ; Lush, Michael ; Michailidou, Kyriaki ; Panayiotidis, Mihalis I. ; Sim, Xueling ; Teo, Soo Hwang ; Tyrer, Jonathan P. ; van der Kolk, Lizet E. ; Wahlström, Cecilia ; Wang, Qin ; Perry, John R. B. ; Benitez, Javier ; Schmidt, Marjanka K. ; Schmutzler, Rita K. ; Pharoah, Paul D. P. ; Droit, Arnaud ; Dunning, Alison M. ; Kvist, Anders ; Devilee, Peter ; Easton, Douglas F. ; Simard, Jacques
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2023-09, Vol.55 (9), p.1435-1439
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    Author / Creator:Navarini, Alexander A. ; Valeyrie-Allanore, Laurence ; Setta-Kaffetzi, Niovi ; Barker, Jonathan N. ; Capon, Francesca ; Creamer, Daniel ; Roujeau, Jean-Claude ; Sekula, Peggy ; Simpson, Michael A. ; Trembath, Richard C. ; Mockenhaupt, Maja ; Smith, Catherine H.
    Publisher:United States: Elsevier Inc
    Journal title:Journal of investigative dermatology, 2013-07, Vol.133 (7), p.1904-1907
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    Author / Creator:Miller, Kerry A ; Cruz Walma, David A ; Pinkas, Daniel M ; Tooze, Rebecca S ; Bufton, Joshua C ; Richardson, William ; Manning, Charlotte E ; Hunt, Alice E ; Cros, Julien ; Hartill, Verity ; Parker, Michael J ; McGowan, Simon J ; Twigg, Stephen R F ; Chalk, Rod ; Staunton, David ; Johnson, David ; Wilkie, Andrew O M ; Bullock, Alex N
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2024-05, Vol.61 (5), p.490-501
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