Search Results - Gerald Pfeffer

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  1. 1
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    From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis Autoría: Homira Osman, Zainab Adamji, Gerald Pfeffer, Jodi Warman‐Chardon, Pryamvada Varma, Jenna Keindel, Stacey Lintern

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  2. 2
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    Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique Autoría: Karl Martin Klein, Rumika Mascarenhas, Daria Merrikh, Maryam Khanbabaei, Tatiana Maroilley, Navprabhjot Kaur, Yiping Liu, Tyler Soule, Minette Manalo, Goichiro Tamura, Julia Jacobs, Walter Hader, Gerald Pfeffer, Maja Tarailo‐Graovac

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  3. 3
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    Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy Autoría: Rumika Mascarenhas, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Navid Ghaderi, Tatiana Maroilley, Yiping Liu, Tyler Soule, Juan Pablo Appendino, Julia Jacobs, Samuel Wiebe, Walter Hader, Gerald Pfeffer, Maja Tarailo‐Graovac, Karl Martin Klein

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  4. 4
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    Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives Autoría: Homira Osman, Zainab Adamji, Stacey Lintern, Ian C. Smith, Alyssa Grant, Lola E.R. Lessard, Hanns Lochmuller, Hugh McMillan, Kathryn Selby, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Kednapa Thavorn, Jodi Warman‐Chardon

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  5. 5
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    FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium Autoría: Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Kym M. Boycott

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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