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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersWe aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.
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Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability ResearchBuilding data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research
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Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical StatementStandards and consensus recommendations are presented for manufacturers, clinicians, operators, and researchers
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The impact of pre-pregnancy body mass index and gestational weight gain on placental abruption risk: a systematic review and meta-analysisMothers that are underweight prior to or in early pregnancy are at a moderately increased risk of placental abruption
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“Our culture, how it is to be us” — Listening to Aboriginal women about on Country urban birthingThe Birthing on Noongar Boodjar project Aboriginal women's data represents four generations of women's stories, experiences and expressions of childbearing
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Family history of cancer and the risk of childhood brain tumors: a pooled analysis of the ESCALE and ESTELLE studies (SFCE)Our findings support the hypothesis of a familial susceptibility of childhood brain tumors, not due to being a known neurofibromatosis carrier
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Propofol use in children with allergies to egg, peanut, soybean or other legumesWe conclude that genuine serious allergic reaction to propofol is rare and is not reliably predicted by a history of food allergy
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Nasal Cytokine Profiles of Patients Hospitalised with Respiratory Wheeze Associated with Rhinovirus CMedically attended RV-C-induced wheeze is characterised by a Th2 inflammatory pattern, independent of viral load
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If you think you can do it, that's confidence: If you do it that's competence-Where are we in pediatric anesthesia?Should we be practicing new procedures on children under our care in the absence of formal supervision, teaching, and assessment that prove we are competent to do so
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Congenital Anomalies in Children With Cerebral Palsy: A Systematic ReviewThis systematic review aimed to address gaps in our understanding of the association between congenital anomalies and cerebral palsy