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A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.

artículo científico publicado en 2016

A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy.

artículo científico publicado en 2015

Correlation of radiological and immunochemical parameters with clinical outcome in patients with recurrent glioblastoma treated with Bevacizumab

scientific article published on 15 March 2019

Late onset distal myopathy: A new telethoninopathy

artículo científico publicado en 2018

Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis

scientific article published on 05 September 2018

Morphologic Features on MR Imaging Classify Multifocal Glioblastomas in Different Prognostic Groups

scientific article published on 28 March 2019

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

artículo científico publicado en 2016

The IDH-TAU-EGFR triad defines the neovascular landscape of diffuse gliomas

artículo científico publicado en 2020

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