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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndromeThe genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.
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Environment Changes Genetic Effects on Respiratory Conditions and Allergic PhenotypesGenotype-phenotype associations relating to bronchitis and allergy susceptibility are dependent on the environment
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A qualitative investigation of recovery after femoral fracture in Rett syndromeThis study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.
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Cord blood Streptococcus pneumoniae-specific cellular immune responses predict early pneumococcal carriage in high-risk infants in Papua New GuineaWe aimed to explore whether newborns in high-risk areas have pre-existing pneumococcal-specific cellular immune responses that effects early acquisition.
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Maltreatment risk among children with disabilitiesSupports are needed for families with children with disabilities to assist in meeting the child's health and developmental needs, but also to support the parents in managing the often more complex parenting environment.
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Food Challenge and Community-Reported Reaction Profiles in Food-Allergic Children Aged 1 and 4 Years: A Population-Based Study.This publication compares reaction profiles from food challenges and parent-reported reactions on accidental ingestion, and assess predictors of severe reactions.
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The Prevalence of Stimulant and Antidepressant Use by Australian Children and AdolescentsA minority of 4- to 17-year-olds with ADHD and major depressive disorder were being treated with stimulant or antidepressant medication
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A Comprehensive Needs Assessment Tool for Planning Rheumatic Heart Disease Control Programs in Limited Resource SettingsRHD is an important cause of disability and death in low- and middle-income countries.
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Sex differences in the association of phospholipids with components of the metabolic syndrome in young adultsThe aim of this study was to identify sex-specific differences in the metabolome and its relation to components of the metabolic syndrome in a young adult population
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Facilitating Empowerment and Self-Determination Through Participatory Action ResearchThis article details the application of the participatory action research approach by the National Empowerment Project, Aboriginal community-based researchers.