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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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    Using electronic health records to enhance surveillance of diabetes in children, adolescents and young adults: a study protocol for the DiCAYA Network von Conderino, Sarah, Crume, Tessa L, Liese, Angela D, Bellatorre, Anna, Bendik, Stefanie, Anthopolos, Rebecca, Dixon, Brian E, Guo, Yi, Imperatore, Giuseppina, Lee, David C, Rosenman, Marc, Shao, Hui, Utidjian, Levon, Thorpe, Lorna E, Forrest, Christopher, Utidjian, Levon, Shah, Amy, Todd Alonso, G, Deakyne-Davies, Sara, Bunnell, Tim, Kazak, Anne, Kitzmiller, Melody, Kamboj, Manmohan, Christakis, Dimitri, Ranade, Daksha, Hirsch, Annemarie G, DeWalle, Joseph J, Lester Kirchner, H, Lewis, Meredith, Mercer, Dione G, Nordberg, Cara M, Poissant, Amy, Schwartz, Brian S, Dixon, Brian E, Grannis, Shaun, Park, Seho, Allen, Katie, Roberts, Anna, Valvi, Nimish, Warvel, Jeff, Wiensch, Ashley, Hannon, Tamara, Reynolds, Kristi, Chang, John, Lustigova, Eva, McCarthy, Don, Mefford, Matthew T, Wei, Rong, Zhou, Hui, Zhang, Lu, Wong, Anthony, Zelinski, Allison, Luo, Yuan, Rivera, Pedro, Nauman, Elizabeth, Lehmann, Harold P, Zhong, Victor W, Divers, Jasmin, Thorpe, Lorna E, Akerman, Meredith, Anthopolos, Rebecca, Bendik, Stefanie, Conderino, Sarah, Fair, Andrew, Guillaume, Jessica, Islam, Shahidul, Jacobson, Alan, Lee, David C, Okpara, Chinyere, Rajan, Anand, Titus, Andrea, Crume, Tessa, Dabelea, Dana, Anderson, Theresa, Bellatorre, Anna, Conway, Rebecca, Ong, Toan, Pattee, Jack, Burgett, Shawna, Guo, Yi, Shao, Hui, Shenkman, Elizabeth A, Bost, Sarah J, Donahoo, William T, Hogan, William R, Li, Piaopiao, Lyu, Tianchen, Wu, Yonghui, Liese, Angela D, Cai, Bo, Knight, Lisa, Rudisill, Caroline, Stucker, Jessica, Bowlby, Deborah, Obeid, Jihad S, Apperson, Elaine, Ewing, Alex, Imperatore, Giuseppina, Pavkov, Meda, Rolka, Deborah B

    Veröffentlicht in BMJ open

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