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Relevance of Multigene Panels in the Molecular diagnosis of patients with disor...

Pereira-Caetano, Iris; Mendonça, Joana; Mirante, Alice; Cardoso, Rita; Rodrigues, Márcia; Oliveira, João Paulo; Grangeia, Ana; Barbosa, David

Introduction: Next generation sequencing (NGS) is increasingly used in the molecular diagnosis of rare diseases, such as disorders of sexual development (DSD), allowing the analysis of a greater number of genes in a single assay, providing faster results with reduced costs. DSD patients may present high phenotypic overlap (genital ambiguity, sex reversal, delayed/absent puberty, infertility) posing challenges t...


The application of cycling and cycling combined with feedback in the rehabilita...

Barbosa, David; Santos, Cristina; Martins, Maria

Stroke is a leading cause of long-term disabilities, such as hemiparesis, inability to walk without assistance, and dependence of others in the activities of daily living. Motor function rehabilitation after stroke demands for methods oriented to the recovery of the walking capacity. Because of the similarities with walking, cycling leg exercise may present a solution to this problem. The aim of this article is...


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