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Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics.

artículo científico publicado en 2010

Impact of integrated translational research on clinical exome sequencing

artículo científico publicado en 2020

Impact of integrated translational research on clinical exome sequencing

scientific article published in 2023

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

artículo científico publicado en 2017

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

artículo científico publicado en 2017

P086: Mosaic Li-Fraumeni syndrome identified in patient with a previously presumed germline variant following preimplantation genetic testing: A case report

artículo científico publicado en 2023

Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade

artículo científico publicado en 2016

Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol

artículo científico publicado en 2014

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

artículo científico publicado en 2019

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