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Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome DatabaseRett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal
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Level of purposeful hand function as a marker of clinical severity in Rett syndromeWe investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome
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Exposure to diagnostic radiological procedures and the risk of childhood acute lymphoblastic leukemiaDiagnostic irradiation of the mother during pregnancy increases the risk of childhood acute lymphoblastic leukemia
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Stillbirth and neonatal death rates across time: The influence of pregnancy terminations and birth defects in a Western Australian population-based cohort studyChanges in clinical practice related to pregnancy terminations have played a substantial role in shaping stillbirth and neonatal death rates in WA
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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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Systematic review and meta-analysis of respiratory viral coinfections in childrenCoinfection is not associated with increased clinical severity, but further investigations by pathogen pairs are warranted
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Screening for rheumatic heart disease: Quality and agreement of focused cardiac ultrasound by briefly trained health workersAfter brief training, health workers with no prior experience in echocardiography can obtain adequate quality images and make a reliable assessment
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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