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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

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...

Research

Connective tissue growth factor is expressed in bone marrow stromal cells and promotes interleukin-7-dependent B lymphopoiesis

Hematopoiesis occurs in a complex bone marrow microenvironment in which bone marrow stromal cells provide critical support to the process through direct cell...

Research

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...

Research

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...

Research

Are minor echocardiographic changes associated with an increased risk of acute rheumatic fever or progression to rheumatic heart disease?

We aimed to determine the significance of minor heart valve abnormalities, including Borderline RHD, in predicting the future risk of acute rheumatic fever.