Hasil Pencarian - Concepción Hernández-Chico

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  1. 1
    Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.

    Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing. oleh Elisabete Hernández-Imaz, Yolanda Martín, Laura de Conti, German Melean, Ana Valero, Marco Baralle, Concepción Hernández-Chico

    Diterbitkan 2015-01-01
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  2. 2
    Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

    Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy oleh María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez

    Diterbitkan 2019-02-01
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