检索结果 - Anthony Rupar

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  1. 1
    The Cost-Effectiveness of Expanding Newborn Screening for up to 21 Inherited Metabolic Disorders Using Tandem Mass Spectrometry: Results from a Decision-Analytic Model

    The Cost-Effectiveness of Expanding Newborn Screening for up to 21 Inherited Metabolic Disorders Using Tandem Mass Spectrometry: Results from a Decision-Analytic Model 由 Lauren E. Cipriano, C. Anthony Rupar, Gregory S. Zaric

    出版 2007
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  2. 2
    Localization of a dolichyl phosphate phosphatase in plasma membranes of rat liver.

    Localization of a dolichyl phosphate phosphatase in plasma membranes of rat liver. 由 Jack W. Rip, C. Anthony Rupar, Nilabh Chaudhary, K. K. Carroll

    出版 1981
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  3. 3
    Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

    Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Ana... 由 Laila C. Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside, Alexander Levstik, Christopher J. Howlett, Anthony Rupar, Joan H.M. Knoll, Peter Ainsworth, John S. Waye, Bekim Sadiković

    出版 2016
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  4. 4
    Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial

    Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial 由 Anzalee Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin

    出版 2025
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  5. 5
    Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

    Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels 由 Jennifer Kerkhof, Laila C. Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref‐Eshghi, Alan Stuart, C. Anthony Rupar, Paul C. Adams, Robert A. Hegele, Hanxin Lin, David I. Rodenhiser, Joan H.M. Knoll, Peter Ainsworth, Bekim Sadiković

    出版 2017
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  6. 6
    A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

    A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems 由 Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. Litchfield, Matthew B. Lanktree, Gregory B. Gloor, Erik G. Puffenberger, Kevin A. Strauss, Mildred Martens, David A. Ramsay, C. Anthony Rupar, Victoria Mok Siu, Robert A. Hegele

    出版 2009
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  7. 7
    Ambroxol as a novel disease-modifying treatment for Parkinson’s disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial

    Ambroxol as a novel disease-modifying treatment for Parkinson’s disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial 由 Carolina R. A. Silveira, Julia MacKinley, Kristy Coleman, Z. Li, Elizabeth Finger, Robert Bartha, Sarah A. Morrow, Jennie Wells, Michael Borrie, Rommel G. Tirona, C. Anthony Rupar, Guangyong Zou, Robert A. Hegele, Don J. Mahuran, Penny A. MacDonald, Mary E. Jenkins, Mandar Jog, Stephen Pasternak

    出版 2019
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  8. 8
    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome 由 Machteld M. Oud, Carine Bonnard, Dorus A. Mans, Umut Altunoğlu, Sumanty Tohari, Alvin Yu Jin Ng, Ascia Eskin, Hane Lee, C. Anthony Rupar, Nathalie P. de Wagenaar, Ka Man Wu, Piya Lahiry, Gregory J. Pazour, Stanley F. Nelson, Robert A. Hegele, Ronald Roepman, Hülya Kayserili, Byrappa Venkatesh, Victoria Mok Siu, Bruno Reversade, Heleen H. Arts

    出版 2016
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  9. 9
    Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34 + Cells for Correction of Fabry Disease

    Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34 + Cells for Correction of Fabry Disease 由 Ju Huang, Anzalee Khan, B C Y Au, Dwayne L. Barber, Lucía López-Vásquez, Nicole L. Prokopishyn, Michel Boutin, Michael Rothe, Jack W. Rip, Mona Abaoui, Murtaza S. Nagree, Shaalee Dworski, Axel Schambach, Armand Keating, Michael L. West, John S. Klassen, Patricia V. Turner, Sandra Sirrs, C. Anthony Rupar, Christiane Auray‐Blais, Ronan Foley, Jeffrey A. Medin

    出版 2017
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  10. 10
    Lentivirus-mediated gene therapy for Fabry disease

    Lentivirus-mediated gene therapy for Fabry disease 由 Anzalee Khan, Dwayne L. Barber, Ju Huang, C. Anthony Rupar, Jack W. Rip, Christiane Auray‐Blais, Michel Boutin, Pamela O’Hoski, Kristy Gargulak, William M. McKillop, Graeme Fraser, Syed Wasim, Kaye LeMoine, Shelly Jelinski, Ahsan Chaudhry, Nicole L. Prokopishyn, Chantal F. Morel, Stephen Couban, Peter Duggan, Daniel H. Fowler, Armand Keating, Michael L. West, Ronan Foley, Jeffrey A. Medin

    出版 2021
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