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    Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 von Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Schatz, Ulrich A., Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Claes, Kathleen B. M., Eoli, Marica, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

    Veröffentlicht in Human mutation

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    Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 von Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortes, Fanny M, Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernandez-Chico, Concepcion, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Vergano, Samantha A. Schrier, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan

    Veröffentlicht in HUMAN MUTATION

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    Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 von Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan

    Veröffentlicht in Human mutation

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    Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls von Flannick, Jason, Udler, Miriam S, Teslovich, Tanya M, Caulkins, Lizz, Koesterer, Ryan, Blackwell, Thomas W, Brody, Jennifer A, Centeno-Cruz, Federico, Chen, Ling, Contreras-Cubas, Cecilia, Correa, Adolfo, DeFronzo, Ralph A, Drews, Kimberly L, Floyd, James S, Gabriel, Stacey, Garay-Sevilla, Maria Eugenia, García-Ortiz, Humberto, Han, Sohee, Heard-Costa, Nancy L, Jackson, Anne U, Jørgensen, Marit E, Kang, Hyun Min, Kim, Bong-Jo, Koistinen, Heikki A, Kuusisto, Johanna, Leader, Joseph B, Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Lyssenko, Valeriya, Manning, Alisa K, Marcketta, Anthony, Malacara-Hernandez, Juan Manuel, Mendoza-Caamal, Elvia, Morrison, Alanna C, Ndungu, Anne, Ng, Maggie C. Y, O’Dushlaine, Colm, Payne, Anthony J, Rayner, N. William, Robertson, Neil R, Santoro, Nicola, Schurmann, Claudia, Soberón, Xavier, Strom, Tim M, Tam, Claudia H. T, Torres, Jason M, van Dam, Rob M, Witte, Daniel R, Atzmon, Gil, Barzilai, Nir, Bonnycastle, Lori L, Bowden, Donald W, Chan, Edmund, Cheng, Ching-Yu, Cho, Yoon Shin, Duggirala, Ravindranath, Gonzalez, Clicerio, Groop, Leif, Kooner, Jaspal Singh, Kwak, Soo Heon, Laakso, Markku, Lehman, Donna M, Nilsson, Peter, Spector, Timothy D, Tai, E. Shyong, Tuomi, Tiinamaija, Wilson, James G, Aguilar-Salinas, Carlos A, Bottinger, Erwin, Burke, Brian, Chan, Juliana C. N, Frossard, Philippe, Kim, Young Jin, Lee, Jong-Young, Loos, Ruth J. F, O’Donnell, Christopher J, Palmer, Colin N. A, Pankow, James, Rasheed, Asif, Small, Kerrin S, Teo, Yik Ying, Haiman, Christopher, Hanis, Craig L, Tusié-Luna, Teresa, Dewey, Frederick E, Meitinger, Thomas, Lange, Leslie, Grarup, Niels, Hansen, Torben, Zeitler, Philip, Dabelea, Dana, Abecasis, Goncalo, Sladek, Rob, Meigs, James B, Altshuler, David, Scott, Laura J, Morris, Andrew P, Florez, Jose C, McCarthy, Mark I


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    Proceedings of the Virtual 3rd UK Implementation Science Research Conference : Virtual conference. 16 and 17 July 2020 von Moullin, Joanna C, Bugnon, Olivier, Perraudin, Clémence, Morrow, April, Carrieri, Daniele, Wong, Geoff, Rushton, Alita, Ntawukuriryayo, Jovial Thomas, Nkurunziza, Dieudonné, VanderZanden, Amy, Drown, Laura, Hanlon, C, Hurley, Mike, Irwin, Sally, Gibney, Amber, Carter, Andrea, Connelly, M, Sheldon, H, Hallett, R, Carter, A, Colbourn, T, Venkatapuram, S, Coumoundouros, Chelsea, Mårtensson, Erika, Ferraris, Giulia, Slemming, W, Makusha, T, Richter, L, Medlinskiene, Kristina, Marques, Iuri, Richardson, Susan, Andleeb, Humma, Brown, Sue, Martin, Jennifer, Soukup, Tayana, Hull, Louise, Kariyawasam, Dulmini, Brooks, Augustin, Amiel, Stephanie, Sevdalis, Nick, People with Diabetes Group, To, Wilson, Green, James SA, Rapport, Frances, Godwin, Gregory, Charani, Esmita, Holmes, Alison, on behalf of co-investigators of ASPIRES, Peven, Kimberly, White, Michelle, Moore, Julia E, Ridout, Alexandra, Goodhart, Venetia, Sandall, Jane, dos Santos Treichel, Carlos Alberto, Campos, Rosana Teresa Onocko, Bailey, Maria, O’Doherty, Jane, Benbow, Nanette, Villamar, Juan, Mongrella, Melissa, Remble, Thomas, Ivers, Noah, Benbow, N, Jones, J, Madkins, K, Li, DH, Mustanski, B, Llewellyn, Clare, Hayward, Andrew, Karim, Yasmin Bou, Webb-Martin, Kelley, Edwards, Chanel, Lakhanpaul, Monica, McDonagh, Sinead TJ, Greaves, Colin J, Grodzinski, Ben, Mowforth, Oliver, On behalf of AO Spine RECODE-DCM Consortia, Thomson, Richard, Hogervorst, S, Vervloet, M, Hugtenburg, JG, Brima, Nataliya, Wurie, H, Daoh, K, Shah, Nida, Nathan, Paul C, McHugh, Sheena, Brown, Tracey, Jurczuk, Magdalena, Bidwell, Posy, Van Der Meulen, Jan, Gurol-Urganci, Ipek, Xyrichis, Andreas, Iliopoulou, Katerina, McCluskey, Jessica, Franklin, Sue, Belton, Emma, Metherall, Pete

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