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Research
Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetranceOur findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling
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Targeting the bone marrow microenvironment: a novel therapeutic strategy for pre-B acute lymphoblastic leukemiaOur findings shed light on the mechanisms of leukemia-induced bone loss
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Challenges in Accurately Assessing Prenatal Alcohol Exposure in a Study of Fetal Alcohol Spectrum Disorder in a Youth Detention CenterAccurately assessing prenatal alcohol consumption is exceptionally challenging when assessed retrospectively as part of a FASD assessment for a young person sentenced to detention
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Nicotine and other potentially harmful compounds in "nicotine-free" e-cigarette liquids in AustraliaThe aim of our investigation was to assess the chemical composition of a range of e-liquids available in Australia, focusing on nicotine and other potentially harmful compounds
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Emerging diabetes and metabolic conditions among Aboriginal and Torres Strait Islander young peopleCollaboration between clinicians and researchers is required to establish the prevalence and disease burden of type 2 diabetes among Indigenous young people
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Risks and obstacles in implementing a public health approach to the wellbeing and protection of childrenWe have also been engaged with and excited by the attempts to adopt a public health approach to the care and protection of children as described throughout this book
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Allergy alerts — The incidence of parentally reported allergies in children presenting for general anesthesiaOnly the minority of parent-reported allergies in pediatric surgical patients were specialist confirmed and likely to be clinically relevant
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High concentrations of middle ear antimicrobial peptides and proteins are associated with detection of middle ear pathogens in children with recurrent acute otitis mediaElevated antimicrobial proteins and peptides and cytokines in middle ear effusion are a marker of inflammation and bacterial persistence
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Understanding group A streptococcal pharyngitis and skin infections as causes of rheumatic fever: Protocol for a prospective disease incidence studyThis study will identify the incidence of true Group A Streptococcal pharyngitis and serological responses to Group A Streptococcal GAS skin infections
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RD-RAP: Beyond rare disease patient registries, devising a comprehensive data and analytic frameworkWe introduce and describe the concept of a Rare Disease Registry and Analytics Platform