Hasil Pencarian - Undiagnosed Disease Network

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  1. 1
    Continuing a search for a diagnosis: the impact of adolescence and family dynamics

    Continuing a search for a diagnosis: the impact of adolescence and family dynamics oleh Ilana M. Miller, Beverly M. Yashar, Undiagnosed Disease Network, Ellen F. Macnamara

    Diterbitkan 2023-01-01
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  2. 2
    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease oleh Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, Undiagnosed Disease Network, Guney Bademci, Mustafa Tekin

    Diterbitkan 2022-04-01
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  3. 3
    P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders

    P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders oleh Kristina Macakova, Jefferson Sinson, Sen Zhao, Hongzheng Dai, Jill Rosenfeld, Gladys Zapata, Shenglan Li, Patricia Ward, Christiana Wang, Chunjing Qu, Becky Maywald, Undiagnosed Disease Network, Brendan Lee, Christine Eng, Pengfei Liu

    Diterbitkan 2024-01-01
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  4. 4
    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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