Sökresultat - Schuler, Elisabeth
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Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy av 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
Publicerad 2019Text -
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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 av 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
Publicerad 2020Text