Search Results - Buscarilli, Michelle

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  1. 1
    Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp

    Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp by Bertola, Débora, Buscarilli, Michelle, Stabley, Deborah L., Baker, Laura, Doyle, Daniel, Bartholomew, Dennis W., Sol-Church, Katia, Gripp, Karen W.

    Published 2017
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    Genotype and phenotype spectrum of NRAS germline variants

    Genotype and phenotype spectrum of NRAS germline variants by Altmüller, Franziska, Lissewski, Christina, Bertola, Debora, Flex, Elisabetta, Stark, Zornitza, Spranger, Stephanie, Baynam, Gareth, Buscarilli, Michelle, Dyack, Sarah, Gillis, Jane, Yntema, Helger G, Pantaleoni, Francesca, van Loon, Rosa LE, MacKay, Sara, Mina, Kym, Schanze, Ina, Tan, Tiong Yang, Walsh, Maie, White, Susan M, Niewisch, Marena R, García-Miñaúr, Sixto, Plaza, Diego, Ahmadian, Mohammad Reza, Cavé, Hélène, Tartaglia, Marco, Zenker, Martin

    Published 2017
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