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Research

CAGE-defined promoter regions of the genes implicated in Rett Syndrome

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome

Research

Anti-infective proteins in breast milk and asthma-associated phenotypes during early childhood

The impact of breast milk feeding on susceptibility to asthma in childhood is highly controversial, due in part to failure of the majority of studies in the...

Research

Scoping review of the literature about family-centred care with caregivers of children with cystic fibrosis

Need for research into family-centred caring as a way of caring for children and families where one or more of the children have cystic fibrosis

Research

Incidence of nonmelanoma skin cancer in relation to ambient UV radiation in white populations, 1978-2012 empirical relationships

This paper examined dose-response relationships between ambient UVR levels and NMSC incidence at the population level.

Research

Diagnostic work-up of neurological syndromes in a rural African setting: Knowledge, Attitudes and practices of health care providers

This publication documented health care provider knowledge, attitudes and practices related to this syndrome in two rural health zones in Bandundu Province,...

Research

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an...

Research

The reliability of an adolescent dietary pattern identified using reduced-rank regression

The aim of the present study was to compare DP identified using the RRR method in a FFQ with those in a 3 d food record (FR).

Research

The microbiology of impetigo in Indigenous children: associations between Streptococcus pyogenes, Staphylococcus aureus, scabies, and nasal carriage

Prevalence and antimicrobial resistance of impetigo pathogens in a randomised, controlled trial of impetigo treatment conducted in remote Indigenous communities

Atypical Presentations

We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.

Large deletions of the MECP2 gene

We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.