1,768 results for Mutation,+Missense+-+genetics

1,768 results for Mutation,+Missense+-+genetics

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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: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:Chang, Suhwan ; Wang, Rui-Hong ; Akagi, Keiko ; Kim, Kyung-Ae ; Martin, Betty K ; Cavallone, Luca ; Haines, Diana C ; Basik, Mark ; Mai, Phuong ; Poggi, Elizabeth ; Isaacs, Claudine ; Looi, Lai M ; Mun, Kein S ; Greene, Mark H ; Byers, Stephen W ; Teo, Soo H ; Deng, Chu-Xia ; Sharan, Shyam K
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature medicine, 2011-10, Vol.17 (10), p.1275-1282
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    Author / Creator:Wolf, Zena T. ; Leslie, Elizabeth J. ; Arzi, Boaz ; Jayashankar, Kartika ; Karmi, Nili ; Jia, Zhonglin ; Rowland, Douglas J. ; Young, Amy ; Safra, Noa ; Sliskovic, Saundra ; Murray, Jeffrey C. ; Wade, Claire M. ; Bannasch, Danika L.
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2014-04, Vol.10 (4), p.e1004257-e1004257
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    Author / Creator:Wu, Xiaowei ; Li, Changxin ; Mao, Jinming ; Li, Ling ; Liu, Yan ; Hou, Yao
    Publisher:Brazil: Associacao Brasileira de Divulgacao Cientifica (ABDC)
    Journal title:Brazilian journal of medical and biological research, 2018-01, Vol.51 (5), p.e6632-e6632
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    Author / Creator:Bisceglia, Luigi ; Purroy, Jesús ; Jiménez-Vidal, Maite ; D'Adamo, Adamo P. ; Rousaud, Ferran ; Beccia, Ercole ; Penza, Rosa ; Rizzoni, Gianfranco ; Gallucci, Michele ; Palacín, Manuel ; Gasparini, Paolo ; Nunes, Virginia ; Zelante, Leopoldo
    Publisher:New York, NY: Elsevier Inc
    Journal title:Kidney international, 2001-04, Vol.59 (4), p.1250-1256
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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: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:Vaser, Robert ; Adusumalli, Swarnaseetha ; Leng, Sim Ngak ; Sikic, Mile ; Ng, Pauline C
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature protocols, 2016-01, Vol.11 (1), p.1-9
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    Author / Creator:Sun, Benjamin B. ; Maranville, Joseph C. ; Peters, James E. ; Stacey, David ; Staley, James R. ; Blackshaw, James ; Burgess, Stephen ; Jiang, Tao ; Paige, Ellie ; Surendran, Praveen ; Oliver-Williams, Clare ; Kamat, Mihir A. ; Prins, Bram P. ; Wilcox, Sheri K. ; Zimmerman, Erik S. ; Chi, An ; Bansal, Narinder ; Spain, Sarah L. ; Wood, Angela M. ; Morrell, Nicholas W. ; Bradley, John R. ; Janjic, Nebojsa ; Roberts, David J. ; Ouwehand, Willem H. ; Todd, John A. ; Soranzo, Nicole ; Suhre, Karsten ; Paul, Dirk S. ; Fox, Caroline S. ; Plenge, Robert M. ; Danesh, John ; Runz, Heiko ; Butterworth, Adam S.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2018-06, Vol.558 (7708), p.73-79
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    Author / Creator:Kaplanis, Joanna ; Samocha, Kaitlin E. ; Wiel, Laurens ; Zhang, Zhancheng ; Arvai, Kevin J. ; Eberhardt, Ruth Y. ; Gallone, Giuseppe ; Lelieveld, Stefan H. ; Martin, Hilary C. ; McRae, Jeremy F. ; Short, Patrick J. ; Torene, Rebecca I. ; de Boer, Elke ; Danecek, Petr ; Gardner, Eugene J. ; Huang, Ni ; Lord, Jenny ; Martincorena, Iñigo ; Pfundt, Rolph ; Reijnders, Margot R. F. ; Yeung, Alison ; Yntema, Helger G. ; Vissers, Lisenka E. L. M. ; Juusola, Jane ; Wright, Caroline F. ; Brunner, Han G. ; Firth, Helen V. ; FitzPatrick, David R. ; Barrett, Jeffrey C. ; Hurles, Matthew E. ; Gilissen, Christian ; Retterer, Kyle
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2020-10, Vol.586 (7831), p.757-762
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    Author / Creator:Chu, Bo ; Kon, Ning ; Chen, Delin ; Li, Tongyuan ; Liu, Tong ; Jiang, Le ; Song, Shujuan ; Tavana, Omid ; Gu, Wei
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature cell biology, 2019-05, Vol.21 (5), p.579-591
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    Author / Creator:Savige, Judith ; Storey, Helen ; Il Cheong, Hae ; Gyung Kang, Hee ; Park, Eujin ; Hilbert, Pascale ; Persikov, Anton ; Torres-Fernandez, Carmen ; Ars, Elisabet ; Torra, Roser ; Hertz, Jens Michael ; Thomassen, Mads ; Shagam, Lev ; Wang, Dongmao ; Wang, Yanyan ; Flinter, Frances ; Nagel, Mato
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2016-09, Vol.11 (9), p.e0161802-e0161802
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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: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:Zhou, Wei ; Brumpton, Ben ; Kabil, Omer ; Gudmundsson, Julius ; Thorleifsson, Gudmar ; Weinstock, Josh ; Zawistowski, Matthew ; Nielsen, Jonas B. ; Chaker, Layal ; Medici, Marco ; Teumer, Alexander ; Naitza, Silvia ; Sanna, Serena ; Schultheiss, Ulla T. ; Cappola, Anne ; Karjalainen, Juha ; Kurki, Mitja ; Oneka, Morgan ; Taylor, Peter ; Fritsche, Lars G. ; Graham, Sarah E. ; Wolford, Brooke N. ; Overton, William ; Rasheed, Humaira ; Haug, Eirin B. ; Gabrielsen, Maiken E. ; Skogholt, Anne Heidi ; Surakka, Ida ; Davey Smith, George ; Pandit, Anita ; Roychowdhury, Tanmoy ; Hornsby, Whitney E. ; Jonasson, Jon G. ; Senter, Leigha ; Liyanarachchi, Sandya ; Ringel, Matthew D. ; Xu, Li ; Kiemeney, Lambertus A. ; He, Huiling ; Netea-Maier, Romana T. ; Mayordomo, Jose I. ; Plantinga, Theo S. ; Hrafnkelsson, Jon ; Hjartarson, Hannes ; Sturgis, Erich M. ; Palotie, Aarno ; Daly, Mark ; Citterio, Cintia E. ; Arvan, Peter ; Brummett, Chad M. ; Boehnke, Michael ; de la Chapelle, Albert ; Stefansson, Kari ; Hveem, Kristian ; Willer, Cristen J. ; Åsvold, Bjørn Olav
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2020-08, Vol.11 (1), p.3981-3981, Article 3981
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    Author / Creator:van Kogelenberg, M ; Goudie, D ; Gray, E ; Harrison, L ; Hawkins, R ; Henderson, A ; Holder, S ; Irving, M ; Bayzetinova, T ; Jones, D ; Kini, U ; Kinning, E ; Kirby, G ; Kirk, C ; Kumar, D ; Lachlan, K ; Lees, M ; Lim, D ; Coomber, E L ; Lowther, G ; Lynch, S A ; Maher, E ; Mansour, S ; Maye, U ; McCann, E ; McMullan, D J ; McNerlan, S ; Metcalfe, K ; Mohammed, S ; Jones, P ; Moore, D ; Morton, J ; Mugalaasi, H ; Newbury-Ecob, R ; Ogilvie, C ; Park, S ; Parker, M J ; Patel, C ; Porteous, D ; Mason, L E ; Ragge, N ; Rankin, J ; Raymond, L ; Rosser, E ; Miller, R ; Sarkar, A ; Scott, C ; Scott, R ; Selby, A ; Shannon, N ; Simpkin, D ; Singzon, R ; Skitt, Z ; Rajan, D ; Splitt, M ; Stewart, F ; Swaminathan, G J ; Tatton-Brown, K ; Temple, I K ; Torokwa, A ; Turner, C ; Turnpenny, P ; Tysoe, C ; Vandersteen, A ; Walker, D ; Ahmed, M ; Widaa, S ; Williams, N ; Wragg, C ; Yau, M ; FitzPatrick, D R ; Anjum, U ; Balasubramanian, M ; Banerjee, R ; Baralle, D ; Baty, D ; Bennett, C ; Berg, J ; Bevan, A P ; Bourdon, L ; Brady, A ; Burton, J ; Chandler, K ; Cooper, N ; Cross, G ; D'Alessandro, M ; Dabir, T ; Davidson, R ; Davies, S ; Dean, J ; Deshpande, C ; Donnelly, C ; Douglas, A ; Eason, J ; Edkins, S ; Foulds, N ; Fryer, A ; Gardiner, C ; Pereira, S L Gomes ; Goodship, J
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2015-03, Vol.519 (7542), p.223-228
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    Author / Creator:Zhang, Bing ; Wang, Jing ; Wang, Xiaojing ; Zhu, Jing ; Liu, Qi ; Shi, Zhiao ; Chambers, Matthew C. ; Zimmerman, Lisa J. ; Shaddox, Kent F. ; Kim, Sangtae ; Davies, Sherri R. ; Wang, Sean ; Wang, Pei ; Kinsinger, Christopher R. ; Rivers, Robert C. ; Rodriguez, Henry ; Townsend, R. Reid ; Ellis, Matthew J. C. ; Carr, Steven A. ; Tabb, David L. ; Coffey, Robert J. ; Slebos, Robbert J. C. ; Liebler, Daniel C.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2014-09, Vol.513 (7518), p.382-387
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    Author / Creator:Gerasimavicius, Lukas ; Liu, Xin ; Marsh, Joseph A.
    Publisher:London: Nature Publishing Group UK
    Journal title:Scientific reports, 2020-09, Vol.10 (1), p.15387-15387, Article 15387
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