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  1. 1
    Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing

    Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing by Josephine Wincent, Hafdís T. Helgadóttir, Fotios Sergouniotis, Angelo Salazar Mantero, Claudia M. B. Carvalho, Helena Malmgren, Anna Lindstrand, Erik Iwarsson

    Published 2024-08-01
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  2. 2
    P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene

    P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene by Shruti Pande, Christopher Grochowski, Davut Pehlivan, Parneet Kaur, Zain Dardas, Haowei Du, Chelsi Rose, Josephine Wincent, Shalini Jhangiani, Lorraine Potocki, Philip Hastings, Jennifer Posey, Anna Lindstrand, Claudia Carvalho, James Lupski

    Published 2025-01-01
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