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Epidemiology and risk factors for typhoid fever in Central Division, Fiji, 2014-2017: A case-control study

Poor sanitation facilities appear to be a major source of Salmonella Typhi in Fiji, with transmission by drinking contaminated surface water and consuming unwashed produce

A review of structural brain abnormalities in Pallister-Killian syndrome

PKS is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associate with neurological defects.

Hospital admission for infection during early childhood influences developmental vulnerabilities at age 5 years

This study demonstrates a pervasive effect of early life infections that require hospital admission on multiple aspects of early child development

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD

Reference genotype and exome data from an Australian Aboriginal population for health-based research

This data set provides a useful reference point for genomic studies on Aboriginal Australians

Candidate gene analysis supports a role for polymorphisms at TCF7L2 as risk factors for type 2 diabetes in Sudan

Multiethnic associations between T2D and SNPs at TCF7L2, CAPN10 and HHEX extend to Sub-Saharan Africa, specifically Sudan

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia

Mucin agarose gel electrophoresis: Western blotting for high-molecularweight glycoproteins

Conventional methods to separate mucin macromolecules by electrophoresis using an agarose gel and transfer protein into nitrocellulose membrane

Vitamin D status and ill health

This paper is a comment in response to a review of Vitamin D status and its association with ill health.

Serum phosphorylated neurofilament-heavy chain levels in multiple sclerosis patients

We evaluated whether the measurement of serum phosphorylated neurofilament heavy chain (pNF-H) titre is likely to be a valid biomarker of axonal injury in...