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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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    Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections von Mis, Emily K., Brodsky, Nina N., Ionita, Cristian, Darbinyan, Armine, Drummond-Borg, Margaret, McGee, Elisabeth, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Sapp, Katie, McKee, Shane, Rea, Gillian, Cooper, Nicola, O’Driscoll, Mary, Scurr, Ingrid, Abbs, Steve, Armstrong, Ruth, Raymond, Lucy, Green, Andrew, Cleary, Elaine, Lampe, Anne, Castle, Bruce, Loughlin, Sam, Izatt, Louise, Roworth, Wendy, Yau, Shu, Jewell, Rosalyn, Sarkar, Ajoy, Canham, Natalie, Burkitt-Wright, Emma, Jones, Elizabeth, Smith, Audrey, Wright, Ronnie, Henderson, Alex, Allen, Zoe, Bernhard, Birgitta, Busby, Louise, Clowes, Virginia, Blair, Edward, Stewart, Alison, Kamath, Arveen, Halai, D., Holman, J.E., Jackson, R., Lopez, F.J., Rogers, T., Savage, K., Sieghart, A., Thomas, E.R.A., Thompson, S.R., Tucci, A., Alejandro, Mercedes E., Amendola, Laura, Andrews, Ashley, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bamshad, Michael, Bayrak-Toydemir, Pinar, Botto, Lorenzo, Coakley, Terra R., Coggins, Matthew, Cooper, Cynthia M., Cunningham, Michael, Dai, Hongzheng, Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Hahn, Sihoun, Hanchard, Neil A., Hayes, Nichole, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Jamal, Fariha, Kennedy, Jennifer, LeBlanc, Kimberly, Macnamara, Ellen F., Maduro, Valerie V., Mak, Bryan, McCauley, Jacob, McGee, Elisabeth, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Pace, Laura, Potocki, Lorraine, Quinlan, Aaron, Raja, Archana N., Robertson, Amy K., Rodan, Lance H., Saporta, Mario, Schaechter, Judy, Signer, Rebecca, Solem, Emily, Solnica-Krezel, Lilianna, Sutton, Shirley, Velinder, Matt, Wheeler, Matthew T., Khokha, Mustafa K.

    Veröffentlicht in Genetics in medicine

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