نتائج البحث - Yendle, Simone C

Rare copy number variants are an important cause of epileptic encephalopathies حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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