Resultados da pesquisa - Yendle, Simone C

Rare copy number variants are an important cause of epileptic encephalopathies Por Mefford, Heather C., Yendle, Simone C., Hsu, Cynthia, Cook, Joseph, Geraghty, Eileen, McMahon, Jacinta M., Eeg-Olofsson, Orvar, Sadleir, Lynette G., Gill, Deepak, Ben-Zeev, Bruria, Lerman-Sagie, Tally, Mackay, Mark, Freeman, Jeremy L., Andermann, Eva, Pelakanos, James, Andrews, Ian, Wallace, Geoffrey, Eichler, Evan E., Berkovic, Samuel F., Scheffer, Ingrid E.

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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology Por Catarino, Claudia B., Liu, Joan Y.W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria, Sisodiya, Sanjay M.

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GRIN2A mutations cause epilepsy-aphasia spectrum disorders Por Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O’Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Samantha J, Tsai, Meng-Han, Webster, Richard, Ouvrier, Robert, Damiano, John A, Berkovic, Samuel F, Shendure, Jay, Hildebrand, Michael S, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C

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Mutations in KCNT1 cause a spectrum of focal epilepsies Por Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., van Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, Dibbens, Leanne M.

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 Por Carvill, Gemma L., Heavin, Sinéad B., Yendle, Simone C., McMahon, Jacinta M., O’Roak, Brian J., Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M. E., Bleasel, Andrew, Howell, Katherine B., Kivity, Sara, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S., Gill, Deepak, Andrade, Danielle M., Freeman, Jeremy L., Sadleir, Lynette G., Shendure, Jay, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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