Found: 4

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  • Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

    Published in:
    2016
    By:
    • Sim, Joe C.;
    • Scerri, Thomas;
    • Fanjul‐Fernández, Miriam;
    • Riseley, Jessica R.;
    • Gillies, Greta;
    • Pope, Kate;
    • van Roozendaal, Hanna;
    • Heng, Julian I.;
    • Mandelstam, Simone A.;
    • McGillivray, George;
    • MacGregor, Duncan;
    • Kannan, Lakshminarayanan;
    • Maixner, Wirginia;
    • Harvey, A. Simon;
    • Amor, David J.;
    • Delatycki, Martin B.;
    • Crino, Peter B.;
    • Bahlo, Melanie;
    • Lockhart, Paul J.;
    • Leventer, Richard J.
    Publication type:
    journal article

  • Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 575, doi. 10.1002/acn3.191
    By:
    • Scerri, Thomas;
    • Riseley, Jessica R.;
    • Gillies, Greta;
    • Pope, Kate;
    • Burgess, Rosemary;
    • Mandelstam, Simone A.;
    • Dibbens, Leanne;
    • Chow, Chung W.;
    • Maixner, Wirginia;
    • Harvey, Anthony Simon;
    • Jackson, Graeme D.;
    • Amor, David J.;
    • Delatycki, Martin B.;
    • Crino, Peter B.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Bahlo, Melanie;
    • Lockhart, Paul J.;
    • Leventer, Richard J.
    Publication type:
    Article

  • The severe epilepsy syndromes of infancy: A population‐based study.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. 358, doi. 10.1111/epi.16810
    By:
    • Howell, Katherine B.;
    • Freeman, Jeremy L.;
    • Mackay, Mark T.;
    • Fahey, Michael C.;
    • Archer, John;
    • Berkovic, Samuel F.;
    • Chan, Eunice;
    • Dabscheck, Gabriel;
    • Eggers, Stefanie;
    • Hayman, Michael;
    • Holberton, James;
    • Hunt, Rodney W.;
    • Jacobs, Susan E.;
    • Kornberg, Andrew J.;
    • Leventer, Richard J.;
    • Mandelstam, Simone;
    • McMahon, Jacinta M.;
    • Mefford, Heather C.;
    • Panetta, Julie;
    • Riseley, Jessica
    Publication type:
    Article

  • A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy.

    Published in:
    Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1177, doi. 10.1111/epi.14087
    By:
    • the Victorian Severe Epilepsy of Infancy Study Group;
    • Howell, Katherine B.;
    • Harvey, A. Simon;
    • Scheffer, Ingrid E.;
    • Carvill, Gemma L.;
    • Mandelstam, Simone;
    • Eggers, Stefanie;
    • Riseley, Jessica;
    • Dalziel, Kim;
    • Myers, Candace T.;
    • Mefford, Heather C.;
    • McMahon, Jacinta M.;
    • Schneider, Amy
    Publication type:
    Article