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Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeThere is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
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Altered attainment of developmental milestones influences the age of diagnosis of rett syndromeThis study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.
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Study protocol for the evaluation of an Infant Simulator based program delivered in schools:This paper presents the study protocol for a pragmatic randomised controlled trial to evaluate the impact of a school based program developed to prevent teenage
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Prenatal alcohol exposure and risk of birth defectsThe goal was to examine the associations between dose, pattern, and timing of prenatal alcohol exposure (PAE) and birth defects.
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Expression of bronchodilator response using forced oscillation technique measurements: absolute versus relativeExpression of bronchodilator response using forced oscillation technique measurements: absolute versus relative
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How valid are the rates of Down syndrome internationally?Rates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking.
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Nasopharyngeal carriage of Haemophilus haemolyticus in otitis-prone and healthy childrenHaemophilus haemolyticus is often incorrectly categorized as nontypeable Haemophilus influenzae (NTHI) upon culture. PCR analyses of 266 NTHI-like nasopharyngea
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Inequalities in child healthy development: some challenges for effective implementationInequalities in child healthy development: some challenges for effective implementation
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Assessment and validation of bronchodilation using the interrupter technique in preschool childrenTo determine and validate a cut-off value for bronchodilation using the interrupter resistance (Rint) in preschool children.
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Community-Level Socioeconomic Inequalities in Infants With Poor Fetal Growth in Western Australia, 1984 to 2006This study describes social and racial inequalities in poor fetal growth in Western Australia between 1984 and 2006.