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

These findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU...

Identified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia

Here we examined single nucleotide polymorphisms (SNPs) in these genes as risk factors for cutaneous (CL) and mucosal leishmaniasis (ML), and leishmaniasis...

This is a retrospective study of 38 cases of infection by Babesia macropus, associated with a syndrome of anaemia and debility in hand-reared or free-ranging...

Viruses, bacteria, and parasites have developed strategies to invade and establish long-term infections in their hosts.

Uniformly low expression of IFN and IFNGR1 in PKDL skin biopsies could explain parasite persistence

The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.

This genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels...

Dissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy.