Kết quả tìm kiếm - Yendle, Simone C

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