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Research

Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia

Neuritin 1, an activity-regulated gene with multiple roles in neurodevelopment & synaptic plasticity, is linked to a subtype of schizophrenia.

Research

Genome-wide association study identifies five loci associated with lung function

Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD).

Research

Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

Research

The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Research

Cohort Profile: The ORIGINS pregnancy and birth cohort

Desiree Doctor Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons) MBBS BMedSci PhD FRACP BA (Hons), MPsych

Research

Comorbidities and quality of life in children with intellectual disability

Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met.

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Experience of gastrostomy using a quality care framework: The example of rett syndrome

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

Research

Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposures

The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.

Research

Modelling the seasonal epidemics of respiratory syncytial virus in young children

This paper describes a mathematical model used to predict when an epidemic of respiratory syncytial virus (RSV) will occur so that preventive measures, such...

Research

Clinical and demographic risk factors associated with mortality during early adulthood in a population-based cohort of childhood-onset Type 1 diabetes

This paper reports calculated standardized mortality ratios in patients with Type 1 diabetes, and assesses the association between poor management of...