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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis...
Research
Promoter-level expression clustering identifies time development of transcriptional regulatory cascades initiated by ERBB receptors in breast cancer cellsThe analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially...
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A social-ecological framework for understanding and reducing cyberbullying behavioursWhile the CFS findings suggest the combined whole-school response to the mediators was somewhat effective, the study wasn't able to determine the relative...
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Vitamin D deficiency at melanoma diagnosis is associated with higher Breslow thicknessBackground: Epidemiological evidence shows that people with thicker, or higher stage, melanomas have lower vitamin D status compared to those with thinner...
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The role of CCN family genes in haematological malignanciesHaematological malignancies, although a broad range of specific disease types, continue to show considerable overlap in classification, and patients are...
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Efficacy of human papillomavirus 16 and 18 vaccine against cervical cancer: Final randomized, double-blind PATRICIA trialWe report final event-driven analysis data on the immunogenicity and efficacy of the human papillomavirus 16 and 18 (HPV-16/18) AS04-adjuvanted vaccine in...
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Prevalence of fetal alcohol syndrome in a population-based sample of children living in remote Australia: The Lililwan Project.Aboriginal leaders concerned about high rates of alcohol use in pregnancy invited researchers to determine the prevalence of fetal alcohol syndrome (FAS) and...
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Risk of cancer among children with birth defects: A novel approachThis novel approach aimed to prevent inflated hazard ratios arising from reverse causation, and allow identification of associations beyond those already...
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Productive infection of human embryonic stem cell-derived nkx2.1+ respiratory progenitors with human rhinovirus.Our experiments provide proof of principle for the use of PSC-derived respiratory epithelial cells in the study of cell-virus interactions.
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Lack of replication for the myosin-18B association with mathematical ability in independent cohortsTwin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular...