検索結果 - Schuler, Elisabeth

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy 著者: Butler, Kameryn M, Moody, Olivia A, Schuler, Elisabeth, Coryell, Jason, Alexander, John J, Jenkins, Andrew, Escayg, Andrew

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Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy 著者: XiangWei, Wenshu, Kannan, Varun, Xu, Yuchen, Kosobucki, Gabrielle J, Schulien, Anthony J, Kusumoto, Hirofumi, Moufawad El Achkar, Christelle, Bhattacharya, Subhrajit, Lesca, Gaetan, Nguyen, Sylvie, Helbig, Katherine L, Cuisset, Jean-Marie, Fenger, Christina Dühring, Marjanovic, Dragan, Schuler, Elisabeth, Wu, Ye, Bao, Xinhua, Zhang, Yuehua, Dirkx, Nina, Schoonjans, An-Sofie, Syrbe, Steffen, Myers, Scott J, Poduri, Annapurna, Aizenman, Elias, Traynelis, Stephen F, Lemke, Johannes R, Yuan, Hongjie, Jiang, Yuwu

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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics 著者: Begemann, Anaïs, Sticht, Heinrich, Begtrup, Amber, Vitobello, Antonio, Faivre, Laurence, Banka, Siddharth, Alhaddad, Bader, Asadollahi, Reza, Becker, Jessica, Bierhals, Tatjana, Brown, Kathleen E., Bruel, Ange-Line, Brunet, Theresa, Carneiro, Maryline, Cremer, Kirsten, Day, Robert, Denommé-Pichon, Anne-Sophie, Dyment, Dave A., Engels, Hartmut, Fisher, Rachel, Goh, Elaine S., Hajianpour, M. J., Haertel, Lucia Ribeiro Machado, Hauer, Nadine, Hempel, Maja, Herget, Theresia, Johannsen, Jessika, Kraus, Cornelia, Le Guyader, Gwenaël, Lesca, Gaetan, Mau-Them, Frédéric Tran, McDermott, John Henry, McWalter, Kirsty, Meyer, Pierre, Õunap, Katrin, Popp, Bernt, Reimand, Tiia, Riedhammer, Korbinian M., Russo, Martina, Sadleir, Lynette G., Saenz, Margarita, Schiff, Manuel, Schuler, Elisabeth, Syrbe, Steffen, Van der Ven, Amelie Theresa, Verloes, Alain, Willems, Marjolaine, Zweier, Christiane, Steindl, Katharina, Zweier, Markus, Rauch, Anita

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