Works matching AU Vears, Danya


Results: 46
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    Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

    Published in:
    2019
    By:
    • Berkovic, Samuel F;
    • Oliver, Karen L;
    • Canafoglia, Laura;
    • Krieger, Penina;
    • Damiano, John A;
    • Hildebrand, Michael S;
    • Morbin, Michela;
    • Vears, Danya F;
    • Sofia, Vito;
    • Giuliano, Loretta;
    • Garavaglia, Barbara;
    • Simonati, Alessandro;
    • Santorelli, Filippo M;
    • Gambardella, Antonio;
    • Labate, Angelo;
    • Belcastro, Vincenzo;
    • Castellotti, Barbara;
    • Ozkara, Cigdem;
    • Zeman, Adam;
    • Rankin, Julia
    Publication type:
    journal article
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    ‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1146, doi. 10.1093/brain/awt021
    By:
    • Boissé Lomax, Lysa;
    • Bayly, Marta A.;
    • Hjalgrim, Helle;
    • Møller, Rikke S.;
    • Vlaar, Annemarie M.;
    • Aaberg, Kari M.;
    • Marquardt, Iris;
    • Gandolfo, Luke C.;
    • Willemsen, Michèl;
    • Kamsteeg, Erik-Jan;
    • O’Sullivan, John D.;
    • Korenke, G. Christoph;
    • Bloem, Bastiaan R.;
    • de Coo, Irenaeus F.;
    • Verhagen, Judith M. A.;
    • Said, Ines;
    • Prescott, Trine;
    • Stray-Pedersen, Asbjørg;
    • Rasmussen, Magnhild;
    • Vears, Danya F.
    Publication type:
    Article
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    Key Implications of Data Sharing in Pediatric Genomics.

    Published in:
    JAMA Pediatrics, 2018, v. 172, n. 5, p. 476, doi. 10.1001/jamapediatrics.2017.5500
    By:
    • Rahimzadeh, Vasiliki;
    • Schickhardt, Christoph;
    • Knoppers, Bartha M.;
    • Sénécal, Karine;
    • Vears, Danya F.;
    • Fernandez, Conrad V.;
    • Pfister, Stefan;
    • Plon, Sharon;
    • Terry, Sharon;
    • Williams, Janet;
    • Williams, Marc S.;
    • Cornel, Martina;
    • Friedman, Jan M.
    Publication type:
    Article
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    Return of individual research results from genomic research: A systematic review of stakeholder perspectives.

    Published in:
    PLoS ONE, 2021, v. 16, n. 11, p. 1, doi. 10.1371/journal.pone.0258646
    By:
    • Vears, Danya F.;
    • Minion, Joel T.;
    • Roberts, Stephanie J.;
    • Cummings, James;
    • Machirori, Mavis;
    • Blell, Mwenza;
    • Budin-Ljøsne, Isabelle;
    • Cowley, Lorraine;
    • Dyke, Stephanie O. M.;
    • Gaff, Clara;
    • Green, Robert;
    • Hall, Alison;
    • Johns, Amber L.;
    • Knoppers, Bartha M.;
    • Mulrine, Stephanie;
    • Patch, Christine;
    • Winkler, Eva;
    • Murtagh, Madeleine J.
    Publication type:
    Article
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    Clinical genetic study of the epilepsy-aphasia spectrum.

    Published in:
    Epilepsia (Series 4), 2013, v. 54, n. 2, p. 280, doi. 10.1111/epi.12065
    By:
    • Tsai, Meng‐Han;
    • Vears, Danya F.;
    • Turner, Samantha J.;
    • Smith, Robert L.;
    • Berkovic, Samuel F.;
    • Sadleir, Lynette G.;
    • Scheffer, Ingrid E.
    Publication type:
    Article
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    Efficacy of the ketogenic diet: Which epilepsies respond?

    Published in:
    Epilepsia (Series 4), 2012, v. 53, n. 3, p. e55, doi. 10.1111/j.1528-1167.2011.03394.x
    By:
    • Thammongkol, Sasipa;
    • Vears, Danya F.;
    • Bicknell-Royle, Jillian;
    • Nation, Judy;
    • Draffin, Kellie;
    • Stewart, Karen G.;
    • Scheffer, Ingrid E.;
    • Mackay, Mark T.
    Publication type:
    Article
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