תוצאות חיפוש - 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 מאת 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

    יצא לאור 2011
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  2. 2
    Rare copy number variants are an important cause of epileptic encephalopathies

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

    יצא לאור 2011
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  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 מאת 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

    יצא לאור 2011
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  4. 4
    GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    GRIN2A mutations cause epilepsy-aphasia spectrum disorders מאת 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

    יצא לאור 2013
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  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 מאת 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

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:
  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 מאת 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

    יצא לאור 2013
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:

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