Hasil Pencarian - Casey Thornton

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  1. 1
    P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2

    P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2 oleh Chelsi Rose, Elizabeth Mizerik, Nichole Owen, Casey Thornton, Chaya Murali, Lorraine Potocki

    Diterbitkan 2024-01-01
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  2. 2
    P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly

    P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly oleh Casey Thornton, Nichole Owen, Elizabeth Mizerik, Chelsi Rose, Seema Lalani, Emily Waskow, Keren Machol

    Diterbitkan 2024-01-01
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  3. 3
    P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy

    P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy oleh Casey Thornton, Elizabeth Mizerik, Dan Brooks, Chaya Murali, Christian Parobek, Lorraine Potocki, Pengfei Liu, Nichole Owen, Liesbeth Vossaert

    Diterbitkan 2023-01-01
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