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Publications by Mauro Santibanez-Koref

Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

Brain
MedicineNeurology
2012English

PTESFinder: A Computational Method to Identify Post-Transcriptional Exon Shuffling (PTES) Events

BMC Bioinformatics
BiochemistryApplied MathematicsComputer Science ApplicationsStructural BiologyMolecular Biology
2016English

Respiratory Chain Deficiency in Nonmitochondrial Disease

Neurology: Genetics
NeurologyGenetics
2015English

Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization

Journal of Neurogenetics
Molecular NeuroscienceGeneticsCellular
2013English

Finding Genes That Influence Quantitative Traits With Tree-Based Clustering

BMC Proceedings
BiochemistryMedicineGeneticsMolecular Biology
2011English

C Identification of the Major Genetic Contributors to Tetralogy of Fallot

2019English

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