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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndromeThe genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.
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Cytokine Responses to Novel Antigens in an Indian Population Living in an Area Endemic for Visceral LeishmaniasisHere we employ whole blood assays to evaluate human cytokine responses to 11 of these antigens, in comparison to known defined and crude antigen preparations.
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Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency DisorderOur study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
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It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndromeThe purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome and to explore spirituality.
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What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analysesThere remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome
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Fetal head circumference growth in children with specific language impairmentThe aim was to characterise fetal brain growth in children with specific language impairment (SLI). A nested case-control study was set in Perth, WA.
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Lack of replication for the myosin-18B association with mathematical ability in independent cohortsTwin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular...
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Overall efficacy of HPV-16/18 AS04-adjuvanted vaccine against grade 3 or greater cervical intraepithelial neoplasiaWe report vaccine efficacy against CIN3+ and adenocarcinoma in situ (AIS) in the end-of-study analysis of PApilloma TRIal against Cancer In young Adults.
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Functional abilities in children and adults with the CDKL5 disorderAlthough abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities
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Down SyndromeDown syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.
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High-throughput quantitative N-glycan analysis of glycoproteinsThis chapter describes in detail four methods to release N-glycans from the glycoprotein of interest.
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Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked dataThe aim of this study was to compare dental hospital admissions in a total state birth population of Indigenous and non-Indigenous children aged under five...
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Incidence and associated risk factors for falls in adults with intellectual disabilityPeople with intellectual disability fall at a younger age compared with the broader community
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In situ 3D imaging of alveoli with a 30 gauge sidefacing optical needle probeProceedings of the Seventh International Conference of Intelligent Sensors, Sensor Networks and Information Processing
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Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic reviewSynthesized findings demonstrate that people with intellectual disability, who live in community or residential settings, may fall more frequently, and at a younger age
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Reducing Rates of Severe Hypoglycemia in a Population-Based Cohort of Children and Adolescents With Type 1 Diabetes Over the Decade 2000–2009The objective of this study was to examine rates of severe hypoglycemia (SH) in a large population-based cohort of children with type 1 diabetes and...
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Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or ID: a narrative reviewWe aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability
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Parental occupational exposure to exhausts, solvents, glues and paints, and risk of childhood leukemiaIt is unknown whether parental occupational exposure to chemicals before during and after pregnancy increases the risk of acute lymphoblastic...
News & Events
Zika threat leads to Australian-first microcephaly studyWA Researchers have conducted an Australian-first study to determine the prevalence of microcephaly, in preparation of any future outbreak of the Zika virus.