Resultados da busca - Schuler, Elisabeth
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1
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy por Butler, Kameryn M, Moody, Olivia A, Schuler, Elisabeth, Coryell, Jason, Alexander, John J, Jenkins, Andrew, Escayg, Andrew
Publicado em 2018Texto -
2
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy por 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
Publicado em 2019Texto -
3
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics por 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
Publicado em 2020Texto