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Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

artículo científico publicado en 2014

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

artículo científico publicado en 2015

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

artículo científico publicado en 2013

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Genome-wide characteristics of de novo mutations in autism

artículo científico publicado en 2016

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

artículo científico publicado en 2017

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

artículo científico publicado en 2016

Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

artículo científico publicado en 2016

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

artículo científico publicado en 2017

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

artículo científico publicado en 2015

Whole-genome sequencing of quartet families with autism spectrum disorder

artículo científico publicado en 2015

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