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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersThere is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care
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Ground zero—the airway epitheliumNew PageThis chapter will discuss the structure of the airway highlighting the now broad number of cell types that comprise it
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Diagnosis of asbestos-related lung diseasesConsideration of the future for asbestos-related lung disease includes screening those at highest risk
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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesThe Human Phenotype Ontology is a standardized vocabulary of phenotypic abnormalities used by researchers, clinicians, informaticians and electronic health record systems
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“We are in this together”: Experiences of relationship satisfaction in couples raising a child with autism spectrum disorderCouples can be supported in these key areas to strengthen their relationship to serve as a source of resilience for families with a child with ASD
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Links2HealthierBubs' cohort study: Protocol for a study on the safety, uptake and effectiveness of influenza and pertussis vaccines among pregnant Australian womenMulti-jurisdictional cohort of mother-infant pairs to measure the uptake, safety and effectiveness of antenatal IIV and dTpa vaccines in three Australian jurisdictions
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New therapeutic opportunities from dissecting the pre-B leukemia bone marrow microenvironmentWe provide evidence that targeting leukemia-induced bone loss is a therapeutic strategy for pre-B ALL
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Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 yearsWe provide new evidence to support current guidelines for orchidopexy before age 18 months to decrease the risk of future testicular cancer and infertility
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ERS technical standard on bronchial challenge testing: pathophysiology and methodology of indirect airway challenge testingAssessment of airway hyperresponsiveness are valuable tools to understand and to monitor airway function and to characterise the underlying asthma phenotype to guide therapy
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Interleukin-1 is associated with inflammation and structural lung disease in young children with cystic fibrosisOur data associates IL-1α with early structural lung damage in CF and suggests this pathway as a novel anti-inflammatory target