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Research

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.

Research

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

Research

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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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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Assessment and management of hypoglycemia in children and adolescents with diabetes

This paper provides clinical practice guidelines for treating low blood sugar in children and adolescents with Type 1 diabetes.

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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...

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Keyhole limpet haemocyanin - A model antigen for human immunotoxicological studies

This 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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Changes in risk factors for preterm birth in Western Australia 1984-2006

Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time...

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Can linked emergency department data help assess the out-of-hospital burden of acute lower respiratory infections

There is a lack of data on the out-of-hospital burden of acute lower respiratory infections (ALRI) in developed countries.