Treffer 1 - 16 von 16 für Suche 'Achkar, JM', Suchdauer: 0,86s Treffer weiter einschränken
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    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias von Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Schwarz, Niklas, Gandini, Maria A., Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Cousin, Margot A., Baker, Joshua, Haan, Eric, Smith, Nicholas, Davis, Erica E., Katsanis, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A., MacLennan, Alastair H., Biskup, Saskia, Rodan, Lance H., Segal, Eric, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Snell, Russell G., Lehnert, Klaus, Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.


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    A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis von Rivas, Manuel A, Graham, Daniel, Sulem, Patrick, Stevens, Christine, Desch, A Nicole, Goyette, Philippe, Gudbjartsson, Daniel, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Degenhardt, Frauke, Mucha, Sören, Kurki, Mitja I, Li, Dalin, D'Amato, Mauro, Annese, Vito, Vermeire, Severine, Weersma, Rinse K, Halfvarson, Jonas, Paavola-Sakki, Paulina, Lappalainen, Maarit, Lek, Monkol, Cummings, Beryl, Tukiainen, Taru, Haritunians, Talin, Halme, Leena, Koskinen, Lotta LE, Ananthakrishnan, Ashwin N, Luo, Yang, Heap, Graham A, Visschedijk, Marijn C, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, MacArthur, Daniel G, Neale, Benjamin M, Ahmad, Tariq, Anderson, Carl A, Brant, Steven R, Duerr, Richard H, Silverberg, Mark S, Cho, Judy H, Palotie, Aarno, Saavalainen, Päivi, Kontula, Kimmo, Färkkilä, Martti, McGovern, Dermot PB, Franke, Andre, Stefansson, Kari, Rioux, John D, Xavier, Ramnik J, Daly, Mark J, Barrett, J, de Lane, K, Edwards, C, Hart, A, Hawkey, C, Jostins, L, Kennedy, N, Lamb, C, Lee, J, Lees, C, Mansfield, J, Mathew, C, Mowatt, C, Newman, B, Nimmo, E, Parkes, M, Pollard, M, Prescott, N, Randall, J, Rice, D, Satsangi, J, Simmons, A, Tremelling, M, Uhlig, H, Wilson, D, Abraham, C, Achkar, JP, Bitton, A, Boucher, G, Croitoru, K, Fleshner, P, Glas, J, Kugathasan, S, Limbergen, JV, Milgrom, R, Proctor, D, Regueiro, M, Schumm, PL, Sharma, Y, Stempak, JM, Targan, SR, Wang, MH

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