Search Results - "Gaunt, T."
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MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
Published in Bioinformatics (Oxford, England) (09-04-2021)“…Abstract Motivation Gene prioritization at human GWAS loci is challenging due to linkage-disequilibrium and long-range gene regulatory mechanisms. However,…”
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MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
Published in Bioinformatics (Oxford, England) (09-04-2021)“…Gene prioritization at human GWAS loci is challenging due to linkage-disequilibrium and long-range gene regulatory mechanisms. However, identifying the causal…”
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Epigenetic profiling of ADHD symptoms trajectories: a prospective, methylome-wide study
Published in Molecular psychiatry (01-02-2017)“…Attention-deficit/hyperactivity disorder (ADHD) is a prevalent developmental disorder, associated with a range of long-term impairments. Variation in DNA…”
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Aging and Goal-Directed Emotional Attention: Distraction Reverses Emotional Biases
Published in Emotion (Washington, D.C.) (01-11-2007)“…Previous findings reveal that older adults favor positive over negative stimuli in both memory and attention (for a review, see Mather & Carstensen, 2005 )…”
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DNA methylation and substance-use risk: a prospective, genome-wide study spanning gestation to adolescence
Published in Translational psychiatry (06-12-2016)“…Epigenetic processes have been implicated in addiction; yet, it remains unclear whether these represent a risk factor and/or a consequence of substance use…”
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Soothing suffering swimmers: a systematic review of the epidemiology, diagnosis, treatment and rehabilitation of musculoskeletal injuries in competitive swimmers
Published in British medical bulletin (01-09-2012)“…This review details the examination, diagnosis, treatment and management of injuries encountered by competitive swimmers. Primarily, these involve the…”
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OC12.08: Longitudinal shape and volume analysis of the fetal brain in the context of fetal spina bifida surgery
Published in Ultrasound in obstetrics & gynecology (01-09-2022)Get full text
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Investigating the use of probability distribution functions in reliability-worth analysis of electric power systems
Published in International journal of electrical power & energy systems (01-05-2012)“…► We model reliability-worth input and output parameters using a beta distribution function. ► Time variation of customer interruption cost was included in the…”
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Preparation of macroporous calcium phosphate cement tissue engineering scaffold
Published in Biomaterials (01-08-2002)“…Unlike sintered hydroxyapatite there is evidence to suggest that calcium phosphate cement (CPC) is actively remodelled in vivo and because CPC is formed by a…”
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Abnormalities of the craniovertebral junction in the paediatric population: a novel biomechanical approach
Published in Clinical radiology (01-10-2018)“…The craniovertebral junction (CVJ) is the bony transition between the cranium and cervical spine. It is a biomechanically complex articulation comprising the…”
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Multi-dimensional customer segmentation model for power system reliability-worth analysis
Published in International journal of electrical power & energy systems (01-11-2014)“…•We segment customers using turnover, economic activity and electricity consumption.•Duration and time of occurrence of power interruptions was included in the…”
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Meeting electrification's social objectives in South Africa, and implications for developing countries
Published in Energy policy (01-07-2005)“…Electrification programmes and projects are usually planned and evaluated on the basis of their economic (financial) and socio-economic performance. It is not…”
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Combining blink, pupil, and response time measures in a concealed knowledge test
Published in Frontiers in psychology (01-01-2013)“…The response time (RT) based Concealed Knowledge Test (CKT) has been shown to accurately detect participants' knowledge of mock-crime-related information…”
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Chest radiographs versus CT for the detection of rib fractures in children (DRIFT): a diagnostic accuracy observational study
Published in The lancet child & adolescent health (01-11-2018)“…Internationally, chest radiography is the standard investigation for identifying rib fractures in suspected physical abuse in infants. Several small…”
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Electricity distribution industry restructuring in South Africa: A case study
Published in Energy policy (01-09-2008)“…For 20 years there has been vigorous debate about restructuring the large, developed electricity industry in South Africa, but the plans have not been…”
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Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits
Published in Journal of medical genetics (01-05-2005)“…Background: The renin angiotensin system is important in the regulation of vascular tone and fluid and electrolyte balance. The angiotensin converting enzyme…”
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Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males
Published in Human molecular genetics (01-07-2001)“…We previously demonstrated an association between the insulin-like growth factor 2 (IGF2) gene 3'-untranslated region (3'-UTR) ApaI polymorphism and body mass…”
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Variants of ADRA2A are associated with fasting glucose, blood pressure, body mass index and type 2 diabetes risk: meta-analysis of four prospective studies
Published in Diabetologia (01-07-2011)“…Aims/hypothesis We quantified the effect of ADRA2A (encoding α-2 adrenergic receptor) variants on metabolic traits and type 2 diabetes risk, as reported in…”
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Present day challenges in understanding the geomagnetic hazard to national power grids
Published in Advances in space research (03-05-2010)“…Power grids and pipeline networks at all latitudes are known to be at risk from the natural hazard of geomagnetically induced currents. At a recent workshop in…”
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