檢索結果 - Amanda Singleton

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  1. 1
    The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases

    The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases 由 Amanda Singleton

    出版 2004
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  2. 2
    A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci

    A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci 由 Amanda Singleton, John Hardy

    出版 2011
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  3. 3
    Informed Choice in Direct‐to‐Consumer Genetic Testing (DTCGT) Websites: A Content Analysis of Benefits, Risks, and Limitations

    Informed Choice in Direct‐to‐Consumer Genetic Testing (DTCGT) Websites: A Content Analysis of Benefits, Risks, and Limitations 由 Amanda Singleton, Lori H. Erby, Kathryn V. Foisie, Kimberly A. Kaphingst

    出版 2011
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    Artigo
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  4. 4
    Association between cardiac denervation and parkinsonism caused by α‐synuclein gene triplication

    Association between cardiac denervation and parkinsonism caused by α‐synuclein gene triplication 由 Amanda Singleton, Katrina Gwinn, Yehonotan Sharabi, Sheng‐Ting Li, Courtney Holmes, Raghuveer Dendi, John Hardy, Andrew Singleton, Anthony Crawley, David S. Goldstein

    出版 2004
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  5. 5
    Clinical features of patients with blepharospasm: a report of 240 patients

    Clinical features of patients with blepharospasm: a report of 240 patients 由 Elizabeth Peckham, Grisel Lopez, Ejaz A. Shamim, S. Pirio Richardson, S. Sanku, Roneil G. Malkani, Mark Stacy, P Mahant, Anthony Crawley, Amanda Singleton, Mark Hallett

    出版 2010
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  6. 6
    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy 由 Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín‐Hernández, María J. Guillen Sacoto, Lindsay B. Henderson, Heather M. McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

    出版 2018
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  7. 7
    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature

    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature 由 Parisa Hemati, Anya Revah‐Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte G. Haug, Erin L. Heinzen, Tristan T. Sands, Vinodh Narayanan, Michelle Primiano, Vimla S. Aggarwal, Francisca Millan, Shannon G. Sattler‐Holtrop, Alfonso Caro‐Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y. Kroes, Stephanie Sacharow, Nicholas Stong, Pablo Lapunzina, Michael C. Schneider, Nancy J. Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monika Weisz Hubshman, Samantha Doyle, Alejandro Iglesias, Francisco Martı́nez, F. Ellis McKenzie, Carmen Orellana, Koen L.I. van Gassen, María Palomares‐Bralo, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel‐Vanagaite, Maria Hafström, Gunnar Houge, David B. Goldstein, Kwame Anyane‐Yeboa

    出版 2018
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