Search Results - Elizabeth Null

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  1. 1

    P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases by Elizabeth Null, Erika Beckman, Christina Lam

    Published in Genetics in Medicine Open (2025-01-01)
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  2. 2

    P424: Suspected CYP26B1-related disorder in a Mixtec patient with craniosynostosis and skeletal anomalies: A case report and literature review by Kajal Verma, Mary Elizabeth Null, Chung Lee

    Published in Genetics in Medicine Open (2024-01-01)
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  3. 3

    Carbonic anhydrase VA deficiency due to a novel CA5A variant by Laura Keehan, Elizabeth Null, Lekha Chilakamarri, Christopher Carter, Chung Lee, Gregory M. Enns, Dena R. Matalon

    Published in Molecular Genetics and Metabolism Reports (2025-12-01)
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