Author

María Gabriela Obregón

Garrahan HospitalORCID 0000-0001-7129-8009Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1

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Abel Gomez· 1 shared Boris Rebolledo‐JaramilloiD· 1 shared Gabriela M. RepettoiD· 1 shared Victoria HuckstadtiD· 1 shared

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2021-2021 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Abel Gomez

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenesPeer-reviewedJan 13, 2021

Contribution of mitochondrial DNA heteroplasmy to the phenotypic variability in maternally transmitted 22q11.2 deletion syndrome

Boris Rebolledo‐Jaramillo, María Gabriela Obregón, Victoria Huckstadt…·Gabriela M. Repetto

This study investigates how mitochondrial DNA heteroplasmy contributes to phenotypic variability in maternally transmitted 22q11.2 deletion syndrome, finding significant variation in palatal phenotype but not cardiac phenotype.

3 citations

humanDNA methylation

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