Browsing by Author Delmiro, Aitor

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Issue DateTitleAuthor(s)
2016A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis.
2015-06-12iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis.
2018Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.