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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
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Environmental Risk Factors by Gender Associated With Attention-Deficit/Hyperactivity DisorderOur study investigates the maternal, pregnancy, and newborn risk factors by gender for children prescribed stimulant medication for treatment of ADHD in WA.
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Novel BRD4-NUT fusion isoforms increase the pathogenic complexity in NUT midline carcinomaThis study contributes to our understanding of the genetic diversity of NMC, an important step towards finding therapeutic targets for a disease that is...
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Young Children in Indonesia's Low-income Rural Communities: How are they doing and what do they need?This chapter describes the development of young children in a sample of poor rural communities across Indonesia.
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Dietary patterns are associated with cognition among older people with mild cognitive impairmentThis study examined the cross-sectional association between dietary patterns & cognition in a sample of 249 people, 65-90 years, with mild cognitive impairment
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Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconusCentral corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma.
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Severity and persistence of asthma and mental health: a birth cohort studyThe goal of the current study was to investigate asthma and mental health among youth in the community.
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Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome familiesFourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
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The diagnostic odyssey to Rett syndrome: The experience of an Australian familyThe diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.
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Clinical investigation of respiratory system admittance in preschool childrenWe compared the ability of Ars, to standard oscillatory outcomes, to determine respiratory disease and differentiate responses to inhaled bronchial challenges.