Search Results - Victoria Rodriguez‐Casero

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  1. 1
    <i>SCN2A</i> encephalopathy

    <i>SCN2A</i> encephalopathy by Katherine B. Howell, Jacinta M. McMahon, Gemma L. Carvill, Dimira Tambunan, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard F. Webster, Damian Clark, Jeremy L. Freeman, Sophie Calvert, Heather E. Olson, Simone Mandelstam, Annapurna Poduri, Heather C. Mefford, A. Simon Harvey, Ingrid E. Scheffer

    Published 2015
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  2. 2
    Cerebral hypomyelination associated with biallelic variants of FIG4

    Cerebral hypomyelination associated with biallelic variants of FIG4 by Lenk, Guy M., Berry, Ian R., Stutterd, Chloe A., Blyth, Moira, Green, Lydia, Vadlamani, Gayatri, Warren, Daniel, Craven, Ian, Miriam, Fanjul-Fernandez, Victoria, Rodriguez-Casero, Lockhart, Paul J, Vanderver, Adeline, Simons, Cas, Gibb, Susan, Sadedin, Simon, White, Susan M., Christodoulou, John, Skibina, Olga, Ruddle, Jonathan, Tan, Tiong Y., Leventer, Richard J., Livingston, John H., Meisler, Miriam H.

    Published 2019
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  3. 3
    The severe epilepsy syndromes of infancy: A population‐based study

    The severe epilepsy syndromes of infancy: A population‐based study by Katherine B. Howell, Jeremy L. Freeman, Mark T. Mackay, Michael Fahey, John S. Archer, Samuel F. Berkovic, E Chan, Gabriel Dabscheck, Stefanie Eggers, Michael J. Hayman, James Holberton, Rod W. Hunt, Susan E Jacobs, Andrew J. Kornberg, Richard J. Leventer, Simone Mandelstam, Jacinta M. McMahon, Heather C. Mefford, Julie Panetta, Jessica R. Riseley, Victoria Rodriguez‐Casero, Monique M. Ryan, Amy L. Schneider, Lindsay J. Smith, Zornitza Stark, Flora Y. Wong, Eppie M. Yiu, Ingrid E. Scheffer, A. Simon Harvey

    Published 2021
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  4. 4
    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 by 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

    Published 2013
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