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A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiologyDiscover and replicate a locus indexed by rs77728904 at 9p21.3 associated with BCP-ALL susceptibility
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Airway epithelial repair in health and disease: Orchestrator or simply a player?This review attempts to highlight migration-specific and cell-extracellular matrix (ECM) aspects of repair used by epithelial cells
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International research utilizing the Early Development Instrument (EDI) as a measure of early child development: Introduction to the Special IssueThis opening paper presents the background to this Special Issue devoted to new international research using Early Development Instrument
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSystematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
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Mucin agarose gel electrophoresis: Western blotting for high-molecularweight glycoproteinsConventional methods to separate mucin macromolecules by electrophoresis using an agarose gel and transfer protein into nitrocellulose membrane
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“I Don’t Get to Play With My Mum Anymore”: Experiences of Siblings Aged 8–12 of Children With Cancer: A Qualitative StudySiblings of children with cancer have been shown to experience disruption in multiple domains including family, school, and friendships. Existing literature on siblings' experiences focuses on older children or on a broad range of ages.
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Widespread dyspigmentation in a childBernadette Ricciardo MBBS (hon) DCH FACD PhD Candidate Bernadette.Ricciardo@thekids.org.au PhD Candidate Dr Bernadette Ricciardo is a PhD student on
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Challenges and considerations for antifungal prophylaxis in children with acute myeloid leukemiaChildren receiving treatment for acute myeloid leukemia (AML) are at high risk of invasive fungal disease (IFD). Evidence from pediatric studies support the efficacy of antifungal prophylaxis in reducing the burden of IFD in children receiving therapy for AML, yet existing antifungal agents have specific limitations and comparative data to inform the optimal prophylactic approach are lacking.
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Feasibility and acceptability of implementing an evidence-based ESCALATION system for paediatric clinical deteriorationThe ESCALATION system is a novel paediatric Early Warning System that incorporates family involvement and sepsis recognition. This study aimed to assess the feasibility and iteratively refine the ESCALATION system in a variety of hospital settings in preparation for full-service implementation.
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Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver surveyRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.