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  1. 1
    P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing

    P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing by Joshua Lowry, Zinayida Schlachetzki, Brendan Burns, Ajay Varadarajan, Brittany Thomas, Richard Wang, Evgenii Chekalin, Jon Albay, Marwan Shinawi, Dorothy Grange, Ryan Taft, Denise Perry, Akanchha Kesari

    Published 2025-01-01
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  2. 2
    P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases

    P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases by Revathi Rajkumar, Anjana Chandrasekhar, Zinayida Schlachetzki, Samin Sajan, Brittany Thomas, Becky Milewski, Joshua Lowry, Richard Wang, Jon Albay, Danny Miller, Kaitlyn Burns, Laura Davis-Keppen, Nora Urraca, Kerri Bosfield, Katherine Cung, Erin Venti, Ryan Taft, Denise Perry, Akanchha Kesari

    Published 2025-01-01
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