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Diogo Ribeiro

Intelligence and National Security Alliance

8

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29

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Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI—Indirect Proof of Principle on Its Pathogenicity

2020
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Mutation frequency of three neurodegenerative lysosomal storage diseases: from screening to treatment?

2017 Archives of Medical Research
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Characterization of a rare Unverricht-Lundborg disease mutation.

2015 Molecular genetics and metabolism reports
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Genetic Variation in a Common Biomarker Encoded By CHIT1

2012 Molecular Genetics and Metabolism
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Rapid and Cost-Effective Method for the Detection of the c.533G>A Mutation in the HEXA Gene

2011 Genetic Testing and Molecular Biomarkers
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Citations (5)