Search Results - Auricchio, Maria TBM

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  1. 1
    Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family

    Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family by Lezirovitz, Karina, Batissoco, Ana C., Lima, Fernanda T., Auricchio, Maria T.B.M., Nonose, Renata W., dos Santos, Simone R., Guilherme, Luiza, Oiticica, Jeanne, Mingroni-Netto, Regina C.

    Published in Gene
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  2. 2
    A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

    A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family by Uehara, Daniela T, Freitas, Érika L, Alves, Leandro U, Mazzeu, Juliana F, Auricchio, Maria TBM, Tabith, Alfredo, Monteiro, Mário LR, Rosenberg, Carla, Mingroni-Netto, Regina C

    Published in Human genome variation
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