Search
Research
Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approachThis 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 diabetesThis paper provides clinical practice guidelines for treating low blood sugar in children and adolescents with Type 1 diabetes.
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 disordersThis study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
Research
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) studyThis genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels...
Research
Host genetic factors in American cutaneous leishmaniasis: A critical appraisal of studies conducted in an endemic area of BrazilThis 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 lymphopoiesisHematopoiesis occurs in a complex bone marrow microenvironment in which bone marrow stromal cells provide critical support to the process through direct cell...
Research
Maternal and family factors and child eating pathology: Risk and protective relationshipsThis study aimed to identify maternal and family factors that may predict increases or decreases in child eating disorder symptoms over time, accounting for...
Research
Environmental, personal, and genetic determinants of response to vitamin D supplementation in older adultsWe aimed to examine genetic and nongenetic determinants of change in serum 25-hydroxyvitamin D (25(OH)D) after supplementation.
Research
Human active X-specific DNA methylation events showing stability across time and tissuesThe phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic...