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Research

Survival and mortality in cerebral palsy: Observations to the sixth decade from a data linkage study of a total population register and National Death Index

Since 1990 mortality for those with severe cerebral palsy in Western Australia has tended to shift from childhood to early adulthood

Research

Epigenetic Age Acceleration in Adolescence Associates with BMI, Inflammation, and Risk Score for Middle Age Cardiovascular Disease

Accelerated epigenetic age in adolescence was associated with inflammation, BMI measured 5 years later, and probability of middle age cardiovascular disease

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Impact of heart disease on maternal, fetal and neonatal outcomes in a low-resource setting

Occult maternal heart disease may be responsible for a substantial proportion of adverse pregnancy outcomes in low-resource settings

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Viewpoints on what is important to maintain relationship satisfaction in couples raising a child with autism spectrum disorder

Couples should be supported to strengthen communication processes and work in partnership to raise their child with ASD through family-centred interventions

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Normative data of muscle fiber diameter of vastus lateralis during childhood: a field test

This short report highlights the requirement for contemporary age-specific normative data from a larger number of biopsies, including typically developing children

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Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability

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International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine glioma

This multi-center study provides valuable information on the success rate of establishing patient-derived pre-clinical models of diffuse intrinsic pontine glioma

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Maternal high fat diet compromises survival and modulates lung development of offspring, and impairs lung function of dams

While maternal high fat diet compromised litter survival, it also promoted somatic and lung growth (increased lung volume) in the offspring

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C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.

We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system

Research

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care