Hasil Pencarian - Shivarajan Amudhavalli

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  1. 1
    P152: TCOF1-related Treacher Collins syndrome: Report of a clinically unaffected parent with mosaicism

    P152: TCOF1-related Treacher Collins syndrome: Report of a clinically unaffected parent with mosaicism oleh Laura Cross, Joseph Alaimo, Shivarajan Amudhavalli

    Diterbitkan 2023-01-01
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  2. 2
    P594: A 3.9 Mb triplication within 11p14.1p13 containing ELP4 and PAX6 in a patient with congenital nystagmus and mild speech delay

    P594: A 3.9 Mb triplication within 11p14.1p13 containing ELP4 and PAX6 in a patient with congenital nystagmus and mild speech delay oleh Lei Zhang, Janda Jenkins, Jennifer Roberts, Elena Repnikova, Shivarajan Amudhavalli, Marla Kennard, Mary Champion, John Herriges

    Diterbitkan 2023-01-01
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  3. 3
    P551: GATEways to improved test utilization: Opening doors and building bridges

    P551: GATEways to improved test utilization: Opening doors and building bridges oleh Lee Zellmer, Mary Rindler, Maggie Humphrey, Jennifer Roberts, Eric Rush, JD Nolen, John Herriges, Ara Hall, Shivarajan Amudhavalli, Carol Saunders

    Diterbitkan 2023-01-01
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  4. 4
    Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

    Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation oleh Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose Gelineau-Morel, Shimul Chowdhury, on behalf of Rady Children’s Institute for Genomic Medicine Investigators, Jennifer Friedman

    Diterbitkan 2020-06-01
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  5. 5
    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center

    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center oleh Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders, Isabelle Thiffault

    Diterbitkan 2023-01-01
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