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    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice von McKnight, Dianalee, Morales, Ana, Bristow, Sara L, Bonkowsky, Joshua L, Perry, Michael Scott, Esplin, Edward D, Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L, Aradhya, Swaroop, Haldeman-Englert, Chad R, Levy, Rebecca J, Lay-Son, Guillermo, de Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Chirita-Emandi, Adela, Felix, Temis M, Kulasa-Luke, Dianne, Karkare, Shefali, Chagnon, Sarah L, Humberson, Jennifer B, Assaf, Melissa J, Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R, Palmquist, Rachel, Hammond, Katherine C, Nolan, Melinda, Batley, Kaitlin Y, Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W, Seinfeld, Syndi, Freeman, Jeremy L, Rodriguez-Vazquez, Natalia, Ryan, Monique M, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S, Bupp, Caleb P, Park, Kristen L, Muller, Eric, Lupo, Pamela, Pedersen, Robert C, Arain, Amir M, Schatz, Krista, Kalika, Paige M, Plaza, Lautaro, Lora, Evelyn G, Carson, Robert P, Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R, Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M, Trasmonte, Joseph, Burke, Rebecca J, Smith, Douglas M, Massingham, Lauren J, Costin, Carrie E, Ostrander, Betsy, Ananth, Amitha L, Mohamed, Ismail S, Nechai, Alla, Dao, Jasmin M, Fahey, Michael C, Aliu, Ermal, Falchek, Stephen, Press, Craig A, Treat, Lauren, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J, Chernuha, Veronika, Meibos, Bailey, Sweney, Matthew T, Espinoza, A. Chris, Van Orman, Colin B, Weinstock, Arie, Kumar, Ashutosh, Nolan, Danielle A, Raza, Muhammad, Marsh, Eric D, Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W, Guzmán, Guillermo G, Pavliuk, Mariia

    Veröffentlicht in JAMA neurology

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    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay von Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.


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