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Expanding the clinical picture of the MECP2 Duplication syndromePerinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome
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25-hydroxyvitamin D status of pregnant women is associated with the use of antenatal vitamin supplements and ambient ultraviolet radiationVitamin D deficiency in a predominantly white Caucasian cohort of pregnant women is less prevalent than has been reported in other studies
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Early life rhinovirus infection exacerbates house-dust-mite induced lung disease more severely in female miceEarly life rhinovirus infection influences the development of house-dust-mite induced lung disease in female, but not male mice
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Alpha-1 antitrypsin mitigates the inhibition of airway epithelial cell repair by neutrophil elastaseFree NE activity is deleterious for epithelial homeostasis and support the hypothesis that proteases in the airway contribute to CF structural lung disease
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Focused transcription from the human CR2/CD21 core promoter is regulated by synergistic activity of TATA and Initiator elements in mature B cellsMature B cells, CR2/CD21 transcription proceeds from a focused TSS regulated by a non-consensus TATA box, an initiator element and downstream promoter element
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Evolutionary genomics of epidemic visceral leishmaniasis in the Indian subcontinentOur results reveal the complexity of Leishmania donovani evolution in the Indian subcontinent in response to drug treatment
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A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndromeThe aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...
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Environmental health challenges in remote Aboriginal Australian communities: clean air, clean water and safe housingA considerable health disparity exists between Aboriginal and non-Aboriginal Australians, including a higher incidence and severity of cardiovascular and...
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Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndromePeople with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general...
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Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cellsOur data support a highly generalizable model in which enhancer transcription is the earliest event in successive waves of transcriptional change during...