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Research

Factors associated with respiratory morbidity in children, adolescents and young adults with cerebral palsy

The primary aim of this study is to identify the predictors and prevalence of severe respiratory disease in children, adolescents and young adults with CP.

Research

Cancer-related mortality in people with mental illness

There is a 30% higher case fatality rate from cancer in psychiatric patients even though their incidence of cancer is no greater than in the general population.

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Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

This 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) study

This 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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Community participation for girls and women living with Rett syndrome

This 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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Host genetic factors in American cutaneous leishmaniasis: A critical appraisal of studies conducted in an endemic area of Brazil

This paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles...

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The prevention, diagnosis and management of central venous line infections in children

With advancing paediatric healthcare, the use of central venous lines has become a fundamental part of management of neonates and children.

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Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approach

This 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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Environmental, personal, and genetic determinants of response to vitamin D supplementation in older adults

We aimed to examine genetic and nongenetic determinants of change in serum 25-hydroxyvitamin D (25(OH)D) after supplementation.

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Human active X-specific DNA methylation events showing stability across time and tissues

The phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic...