Carlos Ignacio Ortez González
Hospital Sant Joan de Déu Barcelona
82 papers found
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The phenotype and genotype of congenital myopathies based on a large pediatric cohort
UploadNew genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Download from academic.oup.comLongitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
Download from doi.orgEpilepsy in LAMA2 -related muscular dystrophy: An electro-clinico-radiological characterization
Download from api.wiley.comClinical presentation and proteomic signature of patients with TANGO2 mutations
Download from api.wiley.comSalbutamol tolerability and efficacy in patients with spinal muscular atrophy type II
UploadCurrent management of Duchenne muscular dystrophy in the Middle East: expert report
Download from doi.orgPLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
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