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Molecular findings from 537 individuals with inherited retinal disease 来自537名遗传性视网膜疾病患者的分子发现 Ellingford, Jamie M.; Barton, Stephanie; Bhaskar, Sanjeev; O'Sullivan, James; Williams, Simon G.; Lamb, Janine A.; Panda, Binay; Sergouniotis, Panagiotis I.; Gillespie, Rachel L.; Daiger, Stephen P.; Hall, Georgina; Gale, Theodora; Lloyd, I. Christopher; Bishop, Paul N.; Ramsden, Simon C.; Black, Graeme C. M. 分享 收藏
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease Ellingford, Jamie M.; Barton, Stephanie; Bhaskar, Sanjeev; Williams, Simon G.; Sergouniotis, Panagiotis I.; O'Sullivan, James; Lamb, Janine A.; Perveen, Rahat; Hall, Georgina; Newman, William G.; Bishop, Paul N.; Roberts, Stephen A.; Leach, Rick; Tearle, Rick; Bayliss, Stuart; Ramsden, Simon C.; Nemeth, Andrea H.; Black, Graeme C. M. 分享 收藏
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Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration Ansari, Morad; Mckeigue, Paul M.; Skerka, Christine; Hayward, Caroline; Rudan, Igor; Vitart, Veronique; Polasek, Ozren; Armbrecht, Ana-Maria; Yates, John R. W.; Vatavuk, Zoran; Bencic, Goran; Kolcic, Ivana; Oostra, Ben A.; Van Duijn, Cornelia M.; Campbell, Susan; Stanton, Chloe M.; Huffman, Jennifer; Shu, Xinhua; Khan, Jane C.; Shahid, Humma; Harding, Simon P.; Bishop, Paul N.; Deary, Ian J.; Moore, Anthony T.; Dhillon, Baljean; Rudan, Pavao; Zipfel, Peter F.; Sim, Robert B.; Hastie, Nicholas D.; Campbell, Harry; Wright, Alan F. 分享 收藏
Seven new loci associated with age-related macular degeneration Fritsche, Lars G.; Chen, Wei; Schu, Matthew; Yaspan, Brian L.; Yu, Yi; Thorleifsson, Gudmar; Zack, Donald J.; Arakawa, Satoshi; Cipriani, Valentina; Ripke, Stephan; Igo, Robert P., Jr.; Buitendijk, Gabrielle H. S.; Sim, Xueling; Weeks, Daniel E.; Guymer, Robyn H.; Merriam, Joanna E.; Francis, Peter J.; Hannum, Gregory; Agarwal, Anita; Armbrecht, Ana Maria; Audo, Isabelle; Aung, Tin; Barile, Gaetano R.; Benchaboune, Mustapha; Bird, Alan C.; Bishop, Paul N.; Branham, Kari E.; Brooks, Matthew; Brucker, Alexander J.; Cade, William H.; Cain, Melinda S.; Campochiaroll, Peter A.; Chan, Chi-Chao; Cheng, Ching-Yu; Chew, Emily Y.; Chin, Kimberly A.; Chowers, Itay; Clayton, David G.; Cojocaru, Radu; Conley, Yvette P.; Cornes, Belinda K.; Daly, Mark J.; Dhillon, Baljean; Edwards, Albert; Evangelou, Evangelos; Fagemess, Jesen; Ferreyra, Henry A.; Friedman, James S.; Geirsdottir, Asbjorg; George, Ronnie J.; Gieger, Christian; Gupta, Neel; Hagstrom, Stephanie A.; Harding, Simon P.; Haritoglou, Christos; Heckenlively, John R.; Hoz, Frank G.; Hughes, Guy; Ioannidis, John P. A.; Ishibashi, Tatsuro; Joseph, Peronne; Jun, Gyungah; Kamatani, Yoichiro; Katsanis, Nicholas; Keilhauer, Claudia N.; Khan, Jane C.; Kim, Ivana K.; Kiyohara, Yutaka; Klein, Barbara E. K.; Klein, Ronald; Kovach, Jaclyn L.; Kozak, Igor; Lee, Clara J.; Lee, Kristine E.; Lichtner, Peter; Lotery, Andrew J.; Meitinger, Thomas; Mitchell, Paul; Mohand-Saied, Saddek; Moore, Anthony T.; Morgan, Denise J.; Morrison, Margaux A.; Myers, Chelsea E.; Naj, Adam C.; Nakamura, Yusuke; Okada, Yukinori; Orlin, Anton; Ortube, M. Carolina; Othman, Mohammad I.; Pappas, Chris; Park, Kyu Hyung; Pauer, Gayle J. T.; Peachey, Neal S.; Poch, Olivier; Priya, Rinki Ratna; Reynolds, Robyn; Richardson, Andrea J.; Ripp, Raymond; Rudolph, Guenther; Ryu, Euijung; Sahel, Jose-Alain; Schaumberg, Debra A.; Scholl, Hendrik P. N.; Schwartz, Stephen G.; Scott, William K.; Shahid, Humma; Sigurdsson, Haraldur; Silvestri, Giuliana; Sivakumaran, Theru A.; Smith, R. Theodore; Sobrin, Lucia; Souied, Eric H.; Stambolian, Dwight E.; Stefansson, Hreinn; Sturgill-Short, Gwen M.; Takahashi, Atsushi; Tosakulwong, Nirubol; Truitt, Barbara J.; Tsironi, Evangelia E.; Uitterlinden, Andre G.; van Duijn, Cornelia M.; Vijaya, Lingam; Vingerling, Johannes R.; Vithana, Eranga N.; Webster, Andrew R.; Wichmann, H-Erich; Winkler, Thomas W.; Wong, Tien Y.; Wright, Alan F.; Zelenika, Diana; Zhang, Ming; Zhao, Ling; Zhang, Kang; Klein, Michael L.; Hageman, Gregory S.; Lathrop, G. Mark; Stefansson, Kari; Allikmets, Rando; Baird, Paul N.; Gorin, Michael B.; Wang, Jie Jin; Klaver, Caroline C. W.; Seddon, Johanna M.; Pericak-Vance, Margaret A.; Iyengar, Sudha K.; Yates, John R. W.; Swaroop, Anand; Weber, Bernhard H. F.; Kubo, Michiaki; DeAngelis, Margaret M.; Leveillard, Thierry; Thorsteinsdottir, Unnur; Haines, Jonathan L.; Farrer, Lindsay A.; Heid, Iris M.; Abecasis, Goncalo R. 分享 收藏
Tissue-Specific Host Recognition by Complement Factor H Is Mediated by Differential Activities of Its Glycosaminoglycan-Binding Regions Clark, Simon J.; Ridge, Liam A.; Herbert, Andrew P.; Hakobyan, Svetlana; Mulloy, Barbara; Lennon, Rachel; Wuerzner, Reinhard; Morgan, B. Paul; Uhrin, Dusan; Bishop, Paul N.; Day, Anthony J. 分享 收藏
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