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Research

Clinical acceptability of the sense_assess© kids: Children and youth perspectives

This study has demonstrated the acceptability of sense_assess© kids for the population for whom it is intended

Research

Health conditions and their impact among adolescents and young adults with down syndrome

The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...

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Epigenetics in immune development and in allergic and autoimmune diseases

This paper is a review about the importance of alterations to the DNA molecule, rather than the DNA sequence, in the development of the immune system, and...

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Childhood brain tumours: Associations with parental occupational exposure to solvents

Paternal exposure to solvents in the year before conception was associated with an increased CBT risk. This increased risk appeared to be mainly attributable...

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Genome-wide DNA methylation profiling identifies a folate-sensitive region of differential methylation upstream of ZFP57-imprinting regulator in humans

This study identified that expsoure to folate has effects on the regulation of DNA methylation during fetal development.

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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

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Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

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The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Research

Immunogenicity and boosting following a reduced number of doses of a Pneumococcal Conjugate Vaccine in infants and toddlers

The minimum number of doses of pneumococcal conjugate vaccine required for protection is not known. We studied the immunogenicity of a reduced schedule in...