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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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Human papillomavirus (HPV)-16/18 AS04-adjuvanted vaccine for the prevention of cervical cancer and HPV-related diseasesHPV-16/18 AS04-adjuvanted vaccine reduces HPV-16/18 infection and associated cervical endpoints in women regardless of age, location, or sexual experience
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Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersThis study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
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Genome-Wide Analysis of Genetic Risk Factors for Rheumatic Heart Disease in Aboriginal Australians Provides Support for Pathogenic Molecular MimicryRheumatic heart disease (RHD) after group A streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers proinflammatory cardiac valve-reactive T cells.
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Mental health problems among 4–17-year-olds with hearing problems: results from a nationally representative studyClinicians caring for children and young people with hearing problems should be alert for heightened risk of specific mental health problems based on age and the nature of hearing problems.
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Early introduction of food reduces food allergy – Pro and ConWhen an infant is developmentally ready, a variety of nutritious foods should be introduced including the ‘more allergenic’ foods during infancy
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A Phase I Study of the CDK4/6 Inhibitor Ribociclib (LEE011) in Pediatric Patients with Malignant Rhabdoid Tumors, Neuroblastoma, and Other Solid TumorsIn this. i study the MTD and RP2D, safety, PK, and preliminary activity of single-agent ribociclib were investigated in patients with neuroblastoma.
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Late talkers and later language outcomes: Predicting the different language trajectoriesThe aim of the current study was to investigate the risk factors present at 2 years for children who showed language difficulties that persisted
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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