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P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency by Ameya Walimbe, Emily Waskow, Laura Mackay, Charul Gijavanekar, Marcus Miller, Sarah Elsea, Fernando Scaglia
Published 2024-01-01
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P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly by Casey Thornton, Nichole Owen, Elizabeth Mizerik, Chelsi Rose, Seema Lalani, Emily Waskow, Keren Machol
Published 2024-01-01
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P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat by Emily Waskow, Elizabeth Mizerik, Nichole Owen, Matthew Hoi Kin Chau, Rachel Franciskovich, Kevin Glinton, Keren Machol
Published 2024-01-01
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