Hasil Pencarian - Kathleen Shields

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  1. 1
    P304: Fifth case of MYH11-associated megacystis-microcolon-intestinal hypoperistalsis syndrome identified in patient with missense variant and whole gene deletion

    P304: Fifth case of MYH11-associated megacystis-microcolon-intestinal hypoperistalsis syndrome identified in patient with missense variant and whole gene deletion oleh Kathleen Shields, Hope Northrup

    Diterbitkan 2023-01-01
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  2. 2
    P279: Triple diagnosis of X-linked chondrodysplasia punctata, MECP2-related disorder, and mosaic Jacobs syndrome in a male infant via rapid WGS

    P279: Triple diagnosis of X-linked chondrodysplasia punctata, MECP2-related disorder, and mosaic Jacobs syndrome in a male infant via rapid WGS oleh Kathleen Shields, Paul Hillman, Laura Farach

    Diterbitkan 2024-01-01
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  3. 3
    P305: Dual diagnoses of mosaic SRY deletion and HSD17B3 deficiency in a patient with discordant fetal sex

    P305: Dual diagnoses of mosaic SRY deletion and HSD17B3 deficiency in a patient with discordant fetal sex oleh Kathleen Shields, David Rodriguez-Buritica, Laura Farach

    Diterbitkan 2023-01-01
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  4. 4
    P284: Clinical overlap in two patients with 46,XY DSD and limb abnormalities with identical variant in candidate gene LHX9

    P284: Clinical overlap in two patients with 46,XY DSD and limb abnormalities with identical variant in candidate gene LHX9 oleh Kathleen Shields, Christina Kresge, Beth Pletcher, Samantha Montgomery, David Rodriguez-Buritica

    Diterbitkan 2024-01-01
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  5. 5
    P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes

    P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes oleh Jeremy Hill, Kathleen Shields, David Rodriguez-Buritica, Laura Farach, Paul Hillman

    Diterbitkan 2023-01-01
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