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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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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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Sexually dimorphic facial features vary according to level of autistic-like traits in the general populationThe current data provide support for Bejerot et al.'s androgyny account since males and females with high levels of autistic-like traits generally showed...
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The effects of in utero vitamin D deficiency on airway smooth muscle mass and lung functionIn this study, we aimed to uncover the molecular mechanisms contributing to altered lung structure and function.
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What do infectious diseases physicians do? A 2-week snapshot of inpatient consultative activities across Australia, New Zealand and SingaporeWe performed a 2-week prospective survey of formal ID physician activities related to direct inpatient care, encompassing 53 hospitals throughout Australia,...
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Association of gestational age at birth with reasons for subsequent hospitalisation: 18 Years of follow-up in a Western Australian population studyPreterm infants are at a higher risk of hospitalisation following discharge from the hospital after birth.
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Molecular tools for differentiation of non-typeable Haemophilus influenzae from Haemophilus haemolyticusThe molecular approaches that have been developed for differentiation of NTHi from H. haemolyticus, with the advantages and disadvantages of each target