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Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium - art. no. 5Tests for Hardy-Weinberg equilibrium (HWE) have been used to detect genotyping error, but those tests have low power unless the sample size is very large.
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Physical and mental health in mothers of children with Down syndrome.Physical and mental health in mothers of children with Down syndrome.
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Infection is the major component of the disease burden in Aboriginal and non-Aboriginal Australian children: a population-based studyInfection accounts for the majority of pediatric mortality and morbidity in developing countries, but there are limited data on the infectious diseases...
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Predictors of scoliosis in Rett syndromeScoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.
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The CoolCot trial: active methods of therapeutic hypothermia for newborns with hypoxic ischaemic encephalopathy during neonatal transport: a study protocol for a randomised controlled trialImpaired oxygen delivery or blood flow to the brain around the time of birth can cause injury. Hypoxic ischaemic encephalopathy is a leading cause of death and disability in term and near-term infants.
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Investigating associations between birth order and autism diagnostic phenotypesBirth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order.
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A pilot study of disease related education and psychotherapeutic support for unresolved grief in parents of children with CFDiagnosis of chronic disease in a child can result in unresolved grief (UG) in parents. This study aimed to evaluate the efficacy of psychological insight-oriented therapy (IOT) as a treatment for UG compared to disease related education in parents of children with cystic fibrosis. Sequence of delivery, first IOT then disease related education (or vice versa) was also examined, to let all participants experience both interventions.
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The bone marrow microenvironment of pre-B acute lymphoblastic leukemia at single-cell resolutionThe bone marrow microenvironment plays a key role in leukemia progression, but its molecular complexity in pre-B cell acute lymphoblastic leukemia (B-ALL), the most common cancer in children, remains poorly understood. To gain further insight, we used single-cell RNA sequencing to characterize the kinetics of the murine BMM during B-ALL progression.
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Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism: A Randomized Clinical Trial of Outcomes to DiagnosisIntervention for individuals with autism spectrum disorder (ASD) typically commences after diagnosis. No trial of an intervention administered to infants before diagnosis has shown an effect on diagnostic outcomes to date.
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Linked data research: a valuable tool in the ART fieldThis letter to the editor endorses data linkage studies and cites their potential value over other types of epidemiological studies within the field of...