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Twenty years of surveillance in Rett syndrome: what does this tell us?This study aimed to describe overall survival and adult health in those with Rett syndrome.
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Community participation for girls and women living with Rett syndromeThis paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
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The correlation between reading and mathematics ability at age twelve has a substantial genetic componentDissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy.
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Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approachThis paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...
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Epigenome-wide association study reveals longitudinally stable DNA methylation differences in CD4+ T cells from children with IgE-mediated food allergyFood allergy is mediated by a combination of genetic and environmental risk factors, potentially mediated by epigenetic mechanisms.
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Assessment and management of hypoglycemia in children and adolescents with diabetesThis paper provides clinical practice guidelines for treating low blood sugar in children and adolescents with Type 1 diabetes.
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Keyhole limpet haemocyanin - A model antigen for human immunotoxicological studiesThis report systematically reviews the human clinical studies that have used trans-cutaneous KLH immunization for assessment of the influence of various...
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Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersThis study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
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Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) studyThis genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels...
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Germ-line and somatic DICER1 mutations in pineoblastomaThis study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility...