Hasil Pencarian - Anna Hurst

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  1. 1
    P655: Using the Alabama Genomic Health Initiative to identify factors that influence the variable expressivity and reduced penetrance of hemochromatosis

    P655: Using the Alabama Genomic Health Initiative to identify factors that influence the variable expressivity and reduced penetrance of hemochromatosis oleh Jacob Greenway, Bruce Korf, Anna Hurst

    Diterbitkan 2023-01-01
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  2. 2
    P582: CSMD1 intragenic exonic deletions strengthen the association with neurodevelopmental disorders

    P582: CSMD1 intragenic exonic deletions strengthen the association with neurodevelopmental disorders oleh Yunjia Chen, Anna Hurst, Angela Seasely, Andrew Carroll, Fady Mikhail

    Diterbitkan 2024-01-01
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  3. 3
    P149: Seeing double: A case series of patients with multiple genetic diagnoses in a small genomics clinic

    P149: Seeing double: A case series of patients with multiple genetic diagnoses in a small genomics clinic oleh Tanner Coleman, Meagan Cochran, Jada Pugh, Melissa Kelly, Anna Hurst

    Diterbitkan 2023-01-01
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  4. 4
    O28: The health economics of gBRCA screening in high-risk breast cancer: How gBRCA became fully reimbursable in a middle-income country*

    O28: The health economics of gBRCA screening in high-risk breast cancer: How gBRCA became fully reimbursable in a middle-income country* oleh Pongtawat Lertwilaiwittaya, Manop Pithukpakorn, Varalak Srinonprasert, Narisa Tantai, Satanun Maneeon, Ryan Kraemer, Anna Hurst

    Diterbitkan 2023-01-01
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  5. 5
    P736: Constitutional mosaic pericentromeric trisomy 8 in a female patient with aplastic anemia

    P736: Constitutional mosaic pericentromeric trisomy 8 in a female patient with aplastic anemia oleh Min Gao, Yunjia Chen, Pongtawat Lertwilaiwittaya, Anna Hurst, Ali Al-Beshri, Andrew Carroll, Fady Mikhail

    Diterbitkan 2024-01-01
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  6. 6
    Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion)

    Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion) oleh Taylor Woodfin, Christine Stoops, Joseph B. Philips III, Edward Lose, Fady M. Mikhail, Anna Hurst

    Diterbitkan 2019-08-01
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  7. 7
    Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

    Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency oleh Natasha Rudy, Kazuhiro Aoki, Amitha Ananth, Lynda Holloway, Cindy Skinner, Anna Hurst, Michael Tiemeyer, Richard Steet

    Diterbitkan 2023-03-01
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  8. 8
    P332: Two independent molecular diagnoses of Loeys-Dietz syndrome in a sibship and their children: A case report

    P332: Two independent molecular diagnoses of Loeys-Dietz syndrome in a sibship and their children: A case report oleh Tanner Coleman, Jada Pugh, Emily Gordon, Stephanie Felker, Anna Hurst, Nadiya Sosonkina, Meagan Cochran, Sara Cooper

    Diterbitkan 2024-01-01
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  9. 9
    P440: DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism

    P440: DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism oleh Yunjia Chen, Ender Karaca, Nathaniel Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna Hurst, Andrew Carroll, Fady Mikhail

    Diterbitkan 2023-01-01
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