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Research

The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of age

In this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...

Research

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Research

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Research

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Research

Decreasing Trends in Mean HbA1c Are Not Associated With Increasing Rates of Severe Hypoglycemia in Children

There have been concurrent improvements in HbA1c and decreasing severe hypoglycemia rates in two pediatric cohorts of type 1 diabetes

Research

High-Rise Apartments and Urban Mental Health—Historical and Contemporary Views

High-rise apartment buildings have long been associated with the poor mental health of their residents

Research

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

Evidence for the existence of additional regulatory mechanisms of the expression of neurodegenerative disease-causing genes by antisense long noncoding RNAs

Research

Validation of an Asbestos Job-Exposure Matrix (AsbJEM) in Australia: Exposure-Response Relationships for Malignant Mesothelioma

Accuracy of the AsbJEM in determining exposure-response relationships between asbestos exposure estimates and malignant mesothelioma incidence

Research

Optimisation of multiplex immunofluorescence for a non-spectral fluorescence scanning system

Here we present two 5-colour immunofluorescence panels designed for T cell characterisation in human colorectal tissue

Research

Analytical bias in the measurement of plasma 25-hydroxyvitamin D concentrations in infants

To our knowledge, this is the first study to show that the reported 25(OH)D concentration may be influenced by both age and assay type