Search Results - "Aguiar, Lisa"
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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
Published in Molecular genetics & genomic medicine (01-05-2015)“…The Aristaless‐related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the…”
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Journal Article -
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Relatório de Estágio Profissionalizante em Medicina Comunitária
Published 01-01-2011“…O presente relatório pretende descrever as actividades realizadas no decurso da Disciplina de Medicina Comunitária, no âmbito do Mestrado Integrado em…”
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Dissertation