Treffer 1 - 20 von 44 für Suche 'Sadleir, R. W.', Suchdauer: 1,50s Treffer weiter einschränken
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    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias von Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.


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    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns von Stamberger, Hannah, Hammer, Trine B., Gardella, Elena, Vlaskamp, Danique R. M., Bertelsen, Birgitte, Mandelstam, Simone, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Almanza Fuerte, Edith P., Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria, Bennett, Mark F., Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Øyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali, Helle, Johan R., Hildebrand, Michael S., Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W., Koeleman, Bobby P. C., Koolen, David A., Korff, Christian, Küry, Sébastien, Lesca, Gaetan, Lev, Dorit, Leventer, Richard J., Mackay, Mark T., Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva, Moutton, Sebastien, Muir, Alison M., Parrini, Elena, Procopis, Peter, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T. R. M., Stuurman, Kyra, Symonds, Joseph D., Mau-Them, Frederic Tran, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet, Zuberi, Sameer M., Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Møller, Rikke S., Scheffer, Ingrid E.

    Veröffentlicht in Genetics in medicine

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