Showing 1 - 3 results of 3 for search 'the Undiagnosed Diseases Network', query time: 0.01s Refine Results
  1. 1
    Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

    Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

    Published 2025-01-01
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  2. 2
    Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

    Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

    Published 2025-01-01
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  3. 3
    A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

    A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases by Yutaka Furuta, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly M. Ezell, Devin Oglesbee, Ralph J. DeBerardinis, John A. Phillips, the Undiagnosed Diseases Network

    Published 2024-11-01
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