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  1. 1
    Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

    Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency by Sara Domingues, Lara Isidoro, Dalila Rocha, Jorge Sales Marques

    Published 2014-01-01
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  2. 2
    Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

    Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene by Catarina Dias, Lara Isidoro, Mafalda Santos, Helena Santos, Jorge Sales Marques

    Published 2013-01-01
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