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The advent of modern "omics" technologies (genomics, transcriptomics, proteomics, and metabolomics) are attributed to innovative breakthroughs in genome sequencing, bioinformatics, and analytic tools. An organism's biological structure and function is the result of the concerted action of single cells in different tissues.
The accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.
Structural and numerical alterations of chromosome 21 are extremely common in hematological malignancies. While the functional impact of chimeric transcripts from fused chromosome 21 genes such as TEL-AML1, AML1-ETO, or FUS-ERG have been extensively studied, the role of gain of chromosome 21 remains largely unknown.
These findings suggest that genetic variants at the VDR locus may play a role in acute wheeze/asthma severity in children
We estimate for the first time the total cost of RHD for Fiji (2008-2012) using a cost-of-illness approach and novel primary data on RHD disease burden and costs.
In the ongoing debate on optimum methods for identification of Indigenous people within linked administrative data, few studies have examined the impacts of method on population counts and outcomes in family-based linkage studies of Aboriginal children.
We report for the first time that a common stress condition, such as viral infection, can exacerbate mitochondrial dysfunction in a genetic model of mitochondrial disease
The current article outlines how individuals with fetal alcohol spectrum disorder may experience inequities within the justice system
An optimized, rapid method for creating markerless isogenic mutations that combines Gibson assembly cloning with a new temperature-sensitive plasmid, pLZts
I review recent high-profile court cases to underscore the changing landscape of conflict and the central role that the media (and social media in particular) can play