Showing 1 - 2 results of 2 for search '"Phelan-McDermid syndrome"', query time: 0.04s Refine Results
  1. 1
    An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome

    An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome by Tess Levy, J. Lloyd Holder, Jr., Joseph P. Horrigan, Michael F. Snape, Alison McMorn, Christina Layton, Hailey Silver, Kate Friedman, Hannah Grosman, Slayton Underwood, Danielle Halpern, Jessica Zweifach, Paige M. Siper, Alexander Kolevzon

    Published 2025-04-01
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  2. 2
    Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing

    Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing by Xingwu Wu, Qiang Xu, Ge Chen, Jialyv Huang, Yanying Zhong, Lifeng Tian, Qiongfang Wu, Jia Chen

    Published 2025-01-01
    Subjects: “…Phelan-McDermid syndrome…”
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