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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSystematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
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International research utilizing the Early Development Instrument (EDI) as a measure of early child development: Introduction to the Special IssueThis opening paper presents the background to this Special Issue devoted to new international research using Early Development Instrument
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The collective impact of rare diseases in Western Australia: An estimate using a population-based cohortThis cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs
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Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their ChildMothers of children with autism without ID had increased risk of cancer, which may relate to common genetic pathways
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Geographic consistency in dominant, non-typeable Haemophilus influenzae genotypes colonising four distinct Australian paediatric groups: a cohort studyIdentified dominant PCR-ribotypes common to geographically disparate Australian paediatric populations
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Australasian Diabetes Data Network: Building a Collaborative ResourceA national collaboration was formed to provide longitudinal collection of T1D patient characteristics and outcomes, the Australasian Diabetes Data Network
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Maternal ethnicity, stillbirth and neonatal death risk in Western Australia 1998–2010Difference in stillbirth and neonatal death rates in Western Australia (1998-2010) by maternal ethnicity
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Prenatal omega-3 fatty acid supplementation does not affect offspring telomere length and F2-isoprostanes at 12 years: A double blind, randomized controlled trialMaternal n-3 LCPUFA supplementation did not provide sustained effects on postnatal oxidative stress and telomere length as observed in the offspring
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High expression of connective tissue growth factor accelerates dissemination of leukaemiaFunctional role of CTGF in altering disease progression in a lymphoid malignancy
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Addressing the challenges of cross-jurisdictional data linkage between a national clinical quality registry and government-held health dataDescribing the challenges of obtaining state and nationally held data for linkage to a non-government national clinical registry