未登录ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; Cooper, Gregory M.; Van Coster, Rudy; Demmer, Laurie A.; Diogo, Luisa; Fay, Alexander J.; Ficicioglu, Can; Fiumara, Agata; Gahl, William A.; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A.; He, Miao; Jaeken, Jaak; James, Philip M.; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J.; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A.; Peters, Heidi L.; Race, Valerie; Regal, Luc; Rush, Jeffrey S.; Rutledge, S. Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E.; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric; Vollo, Arve; Waechter, Charles J.; Wang, Raymond Y.; Wolfe, Lynne A.; Wong, Derek A.; Wood, Tim; Yang, Amy C.; Washington, Univ; Matthijs, Gert; Freeze, Hudson H.
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收藏New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms
Bode, Anna; Wood, Sian-Elin; Mullins, Jonathan G. L.; Keramidas, Angelo; Cushion, Thomas D.; Thomas, Rhys H.; Pickrell, William O.; Drew, Cheney J. G.; Masri, Amira; Jones, Elizabeth A.; Vassallo, Grace; Born, Alfred P.; Alehan, Fusun; Aharoni, Sharon; Bannasch, Gerald; Bartsch, Marius; Kara, Bulent; Krause, Amanda; Karam, Elie G.; Matta, Stephanie; Jain, Vivek; Mandel, Hanna; Freilinger, Michael; Graham, Gail E.; Hobson, Emma; Chatfield, Sue; Vincent-Delorme, Catherine; Rahme, Jubran E.; Afawi, Zaid; Berkovic, Samuel F.; Howell, Owain W.; Vanbellinghen, Jean-Francois; Rees, Mark I.; Chung, Seo-Kyung; Lynch, Joseph W.
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收藏Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; Topcu, Meral; Gokben, Sarenur; Alehan, Fusun; Lemke, Johannes R.; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina
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