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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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Prevalence and treatment of psychiatric disorders other than psychosis in children and adolescents with 22q11DS: Examining associations with social and role functioningThe aim of this study was to investigate the prevalence and treatment of non-psychotic psychiatric disorders
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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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DNA methylation-based classification of central nervous system tumoursHere we present an approach for the DNA methylation-based classification of central nervous system tumors across all groups and demonstrate its application.
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Regular exercise improves the well-being of parents of children with cancerMental health benefits of a pedometer-based exercise intervention for parents of children with cancer were identified.
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Accumulation mode particles and LPS exposure induce TLR-4 dependent and independent inflammatory responses in the lungWe aimed to delineate the effects of LPS and AMP on airway inflammation, and potential contribution to airway disease by measuring airway inflammatory responses
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Conditionally reprogrammed primary airway epithelial cells maintain morphology, lineage and disease specific functional characteristicsHere, we show that conditionally reprogrammed airway epithelial cells (CRAECs) can be established from both healthy and diseased phenotypes.
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Early autism symptoms in infants with tuberous sclerosis complexWe examined early signs of ASD in infants wit tuberous sclerosis complex, approximately 50% of whom will meet criteria for ASD by age 3.
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Investigating the long-term impact of a childhood sun-exposure intervention, with a focus on eye health: protocol for the Kidskin-Young Adult Myopia StudyA follow-up of Kidskin Study participants provides an opportunity to investigate the associations between a childhood sun-exposure intervention and potentially related conditions in adulthood
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Effects of maltreatment and parental schizophrenia spectrum disorders on early childhood social-emotional functioning: a population record linkage studyWe used data from a large Australian population to determine the independent and moderating effects of maltreatment and parental SSDs on early childhood.