Maria Luz Couce
0000-0003-4861-9905
25 papers found
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Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency
Free-access copy-number variant detection tools for targeted next-generation sequencing data
Carbohydrate status in patients with phenylketonuria
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes
Vitamin and mineral status in patients with hyperphenylalaninemia
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