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Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels.
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Long-term outcomes following rheumatic heart disease diagnosis in AustraliaJeffrey Jonathan Judy Cannon Carapetis AM Katzenellenbogen BSc(Hons) BBus PhD AM MBBS FRACP FAFPHM PhD FAHMS BSc (Occ Ther) BSc Hons (Epidemiol) MSc
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School Readiness of Children Exposed to Family and Domestic ViolenceChildren have a universal right to live free from exposure to family and domestic violence (FDV). Children exposed to FDV can experience long-term effects on their physical and psychological health and their social competencies including social, emotional, and cognitive skills and behaviours that underpin successful social adaptation and academic achievement. The aim of this study was to investigate if children exposed to FDV were more likely to be vulnerable on school readiness measures compared to those children who were not exposed.
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Accuracy of Central Neuro-Imaging Review of DIPG Compared with Histopathology in the International DIPG RegistryDiffuse intrinsic pontine glioma (DIPG) remains a clinico-radiologic diagnosis without routine tissue acquisition. Reliable imaging distinction between DIPG and other pontine tumors with potentially more favorable prognoses and treatment considerations is essential.
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CNTNAP2 variants affect early language development in the general populationWe tested the hypothesis that these CNTNAP2 variants affect communicative behavior, measured at 2 years of age in a large epidemiological sample...
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Trivalent influenza vaccine and febrile adverse events in australia, 2010: Clinical features and potential mechanismsIncreased numbers of children presenting with febrile adverse events following trivalent influenza vaccine (TIV) were noted in Australia in 2010.
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Exciting new clinical trials in cystic fibrosis: Infants need not applyThe recent announcement of the negative results of the TIGER- 2 phase 3 study of denufosol tetrasodium
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Sterile abscess formation associated with depot leuprorelin acetate therapy for central precocious pubertyWe describe a case of an 8 year old girl with central precocious puberty
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An unopposed proinflammatory response is beneficial for survival in the oldest old. Results of the Leiden 85-plus studyThe capacity to generate an efficient innate immune response is pivotal for survival.
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Genetic and functional evidence implicating DLL1 as the gene that influences susceptibilityVisceral leishmaniasis (VL) is caused by Leishmania donovani and Leishmania infantum chagasi. Genome-wide linkage studies from Sudan and Brazil identified...