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Research

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an...

Research

Novel drug targets for asthma and COPD: Lessons learned from in vitro and in vivo models

This paper is a review of potential novel therapeutic targets or tools for the treatment of asthma and COPD.

Research

Maternal Vitamin D Levels and the Autism Phenotype Among Offspring

We tested whether maternal vitamin D insufficiency during pregnancy is related to the autism phenotype.

Research

IgE and IgG binding patterns and T-cell recognition of fel d 1 and Non-Fel d 1 cat allergens

To compare IgE and IgG antibody binding and T-cell recognition of the major cat allergen Fel d 1 with other cat proteins with known IgE binding properties.

Research

Population and Public Health Perspectives on Late Language Emergence at 24 Months as a Risk Indicator for Language Impairment at 7 Years

The emergence of language during the toddler period is one of the most striking accomplishments in young children's development.

Research

Neural tube defects in Australia and food fortification with folic acid

Promotion of periconceptional folic acid supplement use began in Australia following publication of randomised trials showing effectiveness.

Atypical Presentations

We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.

Large deletions of the MECP2 gene

We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.