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    A germline variant in the TP53 polyadenylation signal confers cancer susceptibility von Stacey, Simon N, Stefansson, Kari, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn A, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, Juan, Ana De, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, Rossum, Michelle M van, Cremers, Ruben G H M, Oort, Inge M van, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Jinga, Mariana, Csiki, Irma E, Constantinescu, Vali, Badea, Paula, Mates, Ioan N, Dinu, Daniela E, Constantin, Adrian, Mates, Dana, Kristjansdottir, Sjofn, Agnarsson, Bjarni A, Jonsson, Eirikur, Barkardottir, Rosa B, Einarsson, Gudmundur V, Sigurdsson, Fridbjorn, Moller, Pall H, Stefansson, Tryggvi, Valdimarsson, Trausti, Johannsson, Oskar T, Sigurdsson, Helgi, Jonsson, Thorvaldur, Jonasson, Jon G, Tryggvadottir, Laufey, Rice, Terri, Hansen, Helen M, Xiao, Yuanyuan, Lachance, Daniel H, Kosel, Matthew L, Decker, Paul A, Thorleifsson, Gudmar, Johannsdottir, Hrefna, Helgadottir, Hafdis T, Sigurdsson, Asgeir, Steinthorsdottir, Valgerdur, Lindblom, Annika, Sandler, Robert S, Keku, Temitope O, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, Pedersen, Oluf, Jinga, Viorel, Neal, David E, Catalona, William J, Wrensch, Margaret, Wiencke, John, Jenkins, Robert B, Nagore, Eduardo, Vogel, Ulla, Kiemeney, Lambertus A, Kumar, Rajiv, Mayordomo, José I, Olafsson, Jon H, Kong, Augustine, Thorsteinsdottir, Unnur, Rafnar, Thorunn

    Veröffentlicht in Nature genetics

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    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy von Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.


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