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Research

Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukaemia

Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukaemia (ALL).

Research

Description of total population hospital admissions for cleft lip and/or palate in Australia

Orofacial clefts are a group of frequently observed congenital malformations often requiring multiple hospital admissions over the lifespan of affected...

Research

Aberrant expression of aldehyde dehydrogenase 1A (ALDH1A) subfamily genes in acute lymphoblastic leukaemia is a common feature of T-lineage tumours

The class 1A aldehyde dehydrogenase (ALDH1A) subfamily of genes encode enzymes that function at the apex of the retinoic acid (RA) signalling pathway.

Research

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.

Research

Early respiratory infection is associated with reduced spirometry in children with cystic fibrosis

We hypothesized that the presence of these markers of cystic fibrosis lung disease in the first 2 years of life would be associated with reduced lung...

Research

Developing a Model to Account for Attrition Bias in a Longitudinal Cohort

Our objective was to develop a method that could be applied in a longitudinal cohort study to account for attrition bias in an investigation of exclusive...

Research

Plasma retinol and total carotenes and fracture risk after long-term supplementation with high doses of retinol

The aim of this study was to investigate plasma retinol and total carotene concentrations in relation to fracture risk after long-term supplementation with...

Research

Defining the role of common variation in the genomic and biological architecture of adult human height

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability...

Research

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

This paper analyses genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional...