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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing
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Impact of lung disease on respiratory impedance in young children with cystic fibrosisThe present study investigated whether lung function measured by forced oscillation technique would be impaired in the presence of infection,...
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Internet use and electronic gaming by children and adolescents with emotional and behavioural problems in AustraliaThere are links between problem behaviours associated with Internet use and electronic gaming, and mental disorders and risk-taking behaviour in young people
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Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic reviewCommunication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments.
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Which reference equation should we use for interpreting spirometry values for First Nations Australians? A cross-sectional studyTo evaluate the suitability of the Global Lung Function Initiative (GLI)-2012 other/mixed and GLI-2022 global reference equations for evaluating the respiratory capacity of First Nations Australians.
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Mapping Lung Hematopoietic Progenitors: Developmental Kinetics and Response to Influenza A InfectionThe bone marrow is a specialised niche responsible for the maintenance of hematopoietic stem and progenitor cells during homeostasis and inflammation. Recent studies however have extended this essential role to the extramedullary and extravascular lung microenvironment. Here, we provide further evidence for a reservoir of hematopoietic stem and progenitor cells within the lung from embryonic day 18.5 until adulthood.
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A situational assessment of treatments received for childhood diarrhea in the Federal Republic of NigeriaWe assess progress towards improved case management of childhood diarrhea in Nigeria over a period of targeted health systems reform from 2013 to 2018. Individual and community data from three Demographic and Health Survey rounds are leveraged in a geospatial model designed for stratified estimation by venue of treatment seeking and State.
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Determinants of lung function development from birth to age 5 years: an interrupted time series analysis of a South African birth cohortEarly life is a key period that determines long-term health. Lung development in childhood predicts lung function attained in adulthood and morbidity and mortality across the life course. We aimed to assess the effect of early-life lower respiratory tract infection (LRTI) and associated risk factors on lung development from birth to school age in a South African birth cohort.
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Retrospective Examination of Peripubertal Return for Patients of Western Australia's Gender Diversity ServiceChildren far in advance of pubertal development may be deferred from further assessment for gender-affirming medical treatment until nearer puberty. It is vital that returning peripubertal patients are seen promptly to ensure time-sensitive assessment and provision of puberty suppression treatment where appropriate.
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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.