Results 231 to 240 of about 1,098,731 (281)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone   +8 more
wiley   +1 more source

‘Somewhere We Can Call Home and…Be Normal’: Findings From the Justice Housing Programme Evaluation

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The relationship between homelessness or unstable housing and reincarceration is well documented. The initial month after a person is released from custody is a period of particular vulnerability, with an increased risk of homelessness and return to prison.
Helen Taylor, Lorana Bartels
wiley   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Wearable-derived short sleep duration is associated with higher C-reactive protein in a placebo-controlled vaccine trial among young adults. [PDF]

open access: yesSci Rep
Wang C   +8 more
europepmc   +1 more source

Implementing Indigenous Data Sovereignty in Australia: A Five‐Phase Framework for Indigenous Data Governance

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn   +4 more
wiley   +1 more source

Healthcare Resource Utilization and Cost After Temperature‐Controlled Radiofrequency Treatment of Nasal Airway Obstruction: A Real‐World Longitudinal Claims Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Nasal airway obstruction (NAO) is prevalent with substantial health and quality of life burdens. Nasal valve collapse (NVC) is one structural cause of NAO. Temperature‐controlled radiofrequency (TCRF) nasal valve remodeling offers an alternative to invasive surgery.
David W. Kennedy   +7 more
wiley   +1 more source

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