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    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias von Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., 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, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.


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  15. 15

    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index von Boehnke, Michael, Stefansson, Kari, Ingelsson, Erik, Loos, Ruth J F, Willer, Cristen J, Berndt, Sonja I, Jackson, Anne U, Allen, Hana Lango, Luan, Jian'an, Qi, Lu, Steinthorsdottir, Valgerdur, Wheeler, Eleanor, Estrada, Karol, Park, Ju-Hyun, Kilpeläinen, Tuomas O, Yang, Jian, Kutalik, Zoltán, Zhao, Jing Hua, Aben, Katja K, Lamina, Claudia, Myers, Richard H, Narisu, Narisu, Sandholt, Camilla, Lawrence, Robert W, Pellikka, Niina, Thiering, Elisabeth, Almgren, Peter, Balkau, Beverley, Balmforth, Anthony J, Bergmann, Sven, Blakemore, Alexandra I F, Chen, Chih-Mei, Clarke, Robert, Heijer, Martin den, Friedrich, Nele, Geus, Eco J C, Gräßler, Jürgen, Hassanali, Neelam, Hayward, Caroline, Hui, Jennie, Isomaa, Bo, Jewell, Elizabeth, John, Ulrich, Jørgensen, Torben, Kajantie, Eero, Kinnunen, Leena, Knowles, Joshua W, Kolcic, Ivana, Kraft, Peter, Kvaløy, Kirsti, Launer, Lenore J, Lorentzon, Mattias, Marek, Diana, McArdle, Wendy L, Morken, Mario A, Nyholt, Dale R, O'Donnell, Christopher J, Parker, Alex N, Pouta, Anneli, Raitakari, Olli, Salomaa, Veikko, Sanders, Alan R, Sanna, Serena, Savolainen, Markku J, Scherag, Susann, Schipf, Sabine, Schreiber, Stefan, Sinisalo, Juha, Siscovick, David S, Tammesoo, Mari-Liis, Thomson, Brian, van Ommen, Gert-Jan, Zhang, Qunyuan, Zgaga, Lina, Zitting, Paavo, Beilby, John P, Huikuri, Heikki V, Ohlsson, Claes, Ridker, Paul M, Boeing, Heiner, Boomsma, Dorret I, Chanock, Stephen J, Erdmann, Jeanette, Hansen, Torben, Hattersley, Andrew T, Heinrich, Joachim, Hu, Frank B, Jarvelin, Marjo-Riitta, Karpe, Fredrik, Kiemeney, Lambertus A, Laakso, Markku, Rudan, Igor, Tuomilehto, Jaakko, Uda, Manuela, Uitterlinden, André, Valle, Timo T, Purcell, Shaun, Deloukas, Panos, Peltonen, Leena, Wichmann, H-Erich

    Veröffentlicht in Nature genetics

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