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    The Genotype-Tissue Expression (GTEx) project von Lonsdale, John, Thomas, Jeffrey, Salvatore, Mike, Phillips, Rebecca, Hasz, Richard, Walters, Gary, Garcia, Fernando, Young, Nancy, Karasik, Ellen, Gillard, Bryan, Ramsey, Kimberley, Magazine, Harold, Syron, John, Fleming, Johnelle, Traino, Heather, Mosavel, Maghboeba, Barker, Laura, Rohrer, Dan, Maxim, Dan, Filkins, Dana, Harbach, Philip, Cortadillo, Eddie, Berghuis, Bree, Turner, Lisa, Hudson, Eric, Robb, James, Branton, Phillip, Korzeniewski, Greg, Shive, Charles, Tabor, David, Groch, Kevin, Nampally, Sreenath, Buia, Steve, Zimmerman, Angela, Smith, Anna, Burges, Robin, Robinson, Karna, Valentino, Kim, Bradbury, Deborah, Diaz-Mayoral, Norma, Kennedy, Mary, Erickson, Kenyon, Ardlie, Kristin, Winckler, Wendy, Getz, Gad, MacArthur, Daniel, Kellis, Manolis, Thomson, Alexander, Gelfand, Ellen, Donovan, Molly, Meng, Yan, Marcus, Yvonne, Basile, Margaret, Zhu, Jun, Tu, Zhidong, Cox, Nancy J, Gamazon, Eric R, Im, Hae Kyung, Konkashbaev, Anuar, Pritchard, Jonathan, Flutre, Timothèe, Wen, Xiaoquan, Dermitzakis, Emmanouil T, Guigo, Roderic, Monlong, Jean, Sammeth, Michael, Koller, Daphne, Battle, Alexis, Mostafavi, Sara, McCarthy, Mark, Rivas, Manual, Rusyn, Ivan, Nobel, Andrew, Wright, Fred, Shabalin, Andrey, Sturcke, Anne, Paschal, Justin, Anderson, James M, Wilder, Elizabeth L, Derr, Leslie K, Green, Eric D, Temple, Gary, Volpi, Simona, Boyer, Joy T, Thomson, Elizabeth J, Guyer, Mark S, Ng, Cathy, Abdallah, Assya, Colantuoni, Deborah, Insel, Thomas R, Koester, Susan E, Little, A Roger, Bender, Patrick K, Lehner, Thomas, Compton, Carolyn C, Vaught, Jimmie B, Sawyer, Sherilyn, Lockhart, Nicole C, Demchok, Joanne, Moore, Helen F

    Veröffentlicht in Nature genetics

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    Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations von Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy


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