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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
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Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconateThese results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment
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The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitisThese 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...
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A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial generaWe characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.
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A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab FamilyWe performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with...
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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunityTo gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2...
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FLI1 polymorphism affects susceptibility to cutaneous leishmaniasis in BrazilMapping murine genes controlling cutaneous leishmaniasis (CL) identified Fli1 as a candidate influencing resistance to L. major and enhanced wound healing.
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Classification and regression tree and spatial analyses reveal geographic heterogeneityGenome wide linkage studies (GWLS) have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan...
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Structural and IgE binding analyses of recombinant Der p 2 expressed from the hosts Escherichia coli and Pichia pastorisThe house dust mite allergen Der p 2 is one of the most important indoor allergens associated with allergic disease.

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Genetics of Otitis MediaTo determine the genes that play a role in childhood susceptibility to severe OM we established the Western Australian Family Study of OM.