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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.
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Towards precision cancer medicine for Aboriginal and Torres Strait Islander cancer health equityDelivering cancer control at scale for Aboriginal and Torres Strait Islander communities is a national priority that requires Aboriginal and Torres Strait Islander leadership and codesign, as well as significant involvement of the Aboriginal community-controlled health sector. The unique genomic variation observed among Aboriginal and Torres Strait Islander peoples may have implications for standard and precision medicine.
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Cochrane corner: interventions to prevent hearing loss caused by noise at workThe aim of this Cochrane Review was to find out if hearing loss caused by noise at work is being prevented by current interventions
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Examining parent use of specific intervention techniques during a 12-week training program based on the Early Start Denver ModelThis study included five mothers of young children with autism who participated in a 12-week parent training program based on the Early Start Denver Model
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Review of Aboriginal child health services in remote Western Australia identifies challenges and informs solutionWe aimed to identify and map child health services in the very remote Fitzroy Valley, West Kimberley, and document barriers to effective service delivery
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Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander peopleGlobally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achieving this remains constrained by a paucity of data that quantifies access to clinical genomics, particularly amongst Indigenous populations.
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COVID-19-Related Submission Priorities From the Journal of the Pediatric Infectious Diseases SocietyChristopher Blyth MBBS (Hons) DCH FRACP FRCPA PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases
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Performance of antigen detection for HRP2-based malaria rapid diagnostic tests in community surveys: Tanzania, July–November 2017Malaria rapid diagnostic tests (RDTs) based on the detection of the Plasmodium falciparum histidine-rich protein 2 (HRP2) antigen are widely used for detection of active infection with this parasite and are the only practical malaria diagnostic test in some endemic settings.
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Tracking of Vitamin D status from childhood to early adulthood and its association with peak bone massThere are moderate associations between vitamin D status measured in prepuberty, adolescence, and early adulthood
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Optical coherence tomography-based contact indentation for diaphragm mechanics in a mouse model of transforming growth factor alpha induced lung diseaseThis study tested the utility of optical coherence tomography-based indentation to assess mechanical properties of respiratory tissues in disease