Results 141 to 150 of about 181,012 (268)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source

Pragmatic approaches for studying workflow in health informatics. [PDF]

open access: yesJAMIA Open
Ozkaynak M   +3 more
europepmc   +1 more source

On the Prospects for African Philosophy in Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

Stakeholder Perspectives on Therapeutic and Safe Building Design in Residential Care

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Residential care is a form of out‐of‐home care that plays a critical role in supporting vulnerable young people in Australia. However, there is an evidence gap regarding the built environment in this context. This research aimed to explore the perspectives of key stakeholders in residential care in Victoria, Australia, regarding design that ...
Carmen Schroder   +3 more
wiley   +1 more source

Barriers and Enablers for Effective Support Coordination in the National Disability Insurance Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Support coordinators act as intermediaries between the National Disability Insurance Scheme (NDIS) and participants, facilitating access to funded supports. To optimise outcomes, they must navigate NDIS complexities, identify services that meet individual needs and engage with diverse stakeholders.
Sharyn McDonald   +3 more
wiley   +1 more source

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