检索结果 - Simone C. Yendle

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  1. 1
    De novo <i>SCN1A</i> mutations in migrating partial seizures of infancy

    De novo <i>SCN1A</i> mutations in migrating partial seizures of infancy 由 Daniel Carranza Rojo, L Hamiwka, Jacinta M. McMahon, Leanne M. Dibbens, Todor Arsov, Arvid Suls, Tommy Stödberg, Kent R. Kelley, Elaine Wirrell, Budd Appleton, Mark T. Mackay, Jeremy L. Freeman, Simone C. Yendle, Samuel F. Berkovic, Thierry Bienvenu, Peter De Jonghe, David R. Thorburn, John C. Mulley, Heather C. Mefford, Ingrid E. Scheffer

    出版 2011
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  2. 2
    Rare copy number variants are an important cause of epileptic encephalopathies

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

    出版 2011
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  3. 3
    Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

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

    出版 2011
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  4. 4
    GRIN2A mutations cause epilepsy-aphasia spectrum disorders

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

    出版 2013
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  5. 5
    Mutations in <i><scp>KCNT</scp>1</i> cause a spectrum of focal epilepsies

    Mutations in <i><scp>KCNT</scp>1</i> cause a spectrum of focal epilepsies 由 Rikke S. Møller, Sarah E. Heron, Line H.G. Larsen, Chiao Xin Lim, Michael G. Ricos, Marta A. Bayly, Marjan J. A. van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent R. Kelley, Gabriel M. Ronen, David Callen, Jacinta M. McMahon, Simone C. Yendle, Gemma L. Carvill, Heather C. Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, M. G. Baglietto, Federico Zara, Nicholas Smith, Clair Pridmore, Elena Gardella, Marina Nikanorova, Hans A. Dahl, Paul Gellert, Ingrid E. Scheffer, Boudewijn Gunning, Bente Kragh‐Olsen, Leanne M. Dibbens

    出版 2015
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  6. 6
    Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

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

    出版 2013
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