Showing 1 - 2 results of 2 for search 'Jane Beckwell', query time: 0.01s Refine Results
  1. 1
    P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency

    P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency by Marta Bertamino, David Goldberg, M. Zulf Mughal, Y. Joyce Liao, Lisa Pabst, Lisa R. Sun, Katie Swanner, Ruth du Moulin, Jane Beckwell, Amina Kozaric, Mark Kiel, Carlos Ferreira, Shira Ziegler

    Published 2025-01-01
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  2. 2
    P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports

    P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports by Jeffrey Bissonnette, Betty Mathias, Melida Mahinic, Ana Gutalj, Rasema Bihorac Hrelja, Mirna Racic, Sabina Alagic, Ena Toman, Paty Romero, Jane Beckwell, Elizabeth Wiley, Kathryn Curry, Anna McGill, Amina Kozaric, Mark Kiel

    Published 2025-01-01
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