Hasil Pencarian - Joy Cogan

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  1. 1
    P328: The contribution of mosaicism to genetic diseases and presumed de novo mutations*

    P328: The contribution of mosaicism to genetic diseases and presumed de novo mutations* oleh Rory Tinker, Lisa Bastarache, Kimberly Ezell, Shilpa Nadimpalli Kobren, Cecilia Esteves, Rizwan Hamid, Joy Cogan, David Rinker, Souhrid Mukharjee, John A. Phillips

    Diterbitkan 2023-01-01
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  2. 2
    Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

    Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia oleh R. Michael Sivley, Jonathan H. Sheehan, Jonathan A. Kropski, Joy Cogan, Timothy S. Blackwell, John A. Phillips, William S. Bush, Jens Meiler, John A. Capra

    Diterbitkan 2018-01-01
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  3. 3
    Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

    Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms oleh Thomas A. Cassini, Laura Duncan, Lynette C. Rives, John H. Newman, John A. Phillips, Mary E. Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, Undiagnosed Diseases Network

    Diterbitkan 2019-06-01
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  4. 4
    A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male

    A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male oleh Karen L. DeBalsi, John H. Newman, Laura J. Sommerville, John A. Phillips, Rizwan Hamid, Joy Cogan, Joshua P. Fessel, Anne M. Evans, Undiagnosed Diseases Network, Adam D. Kennedy

    Diterbitkan 2023-03-01
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  5. 5
    Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

    Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network oleh Heidi Cope, Rebecca Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily Glanton, Jennifer A. Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden‐Grant, Undiagnosed Diseases Network, James P. Orengo, Gary Clark, Lindsay C. Burrage, Jennifer E. Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A. Phillips III, Julian Martinez‐Agosto, Vandana Shashi

    Diterbitkan 2020-10-01
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  6. 6
    IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells

    IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells oleh John H. Newman, Aaron Shaver, Jonathan H. Sheehan, Simon Mallal, John H. Stone, Shiv Pillai, Lisa Bastarache, Derek Riebau, Hugues Allard‐Chamard, William M. Stone, Cory Perugino, Mark Pilkinton, Scott A. Smith, Wyatt J. McDonnell, John A. Capra, Jens Meiler, Joy Cogan, Kelly Xing, Vinay S. Mahajan, Hamid Mattoo, Rizwan Hamid, John A. Phillips III, Undiagnosed Disease Network

    Diterbitkan 2019-06-01
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