Results 181 to 190 of about 59,815 (294)

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner   +7 more
wiley   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha   +6 more
wiley   +1 more source

Expectations and Reality: The Lived Experiences of Australians With Psychosocial Disability Within the NDIS

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT While Australia's National Disability Insurance Scheme (NDIS) was founded on principles of choice and control, for people with significant mental health challenges (what the NDIS calls ‘psychosocial disability’) these ideals often remain elusive. Support systems continue to be fractured and in the context of ongoing policy reforms, it is vital
Joel Hollier, Jennifer Smith‐Merry
wiley   +1 more source

‘Shelter is a Dignity’: Rental Racism, Stress and Housing (In)justice

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Australia's private rental sector is in crisis, and culturally and racially minoritised renters face compounded harms through both covert and everyday direct forms of rental racism. Drawing on five community‐based focus groups in Melbourne (n = 37), the paper explores how racism manifests across the rental pathway and how it structures the ...
Erika Martino   +3 more
wiley   +1 more source

How Can Community Music Enhance Place‐Based Efforts to Create Greater Social Equity? Insights From an Australian Cultural Mapping Exercise

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Social inequity is increasing in Australia, often manifesting in entrenched locational disadvantage that requires place‐based responses grounded in local strengths, knowledge and participation. While community music programmes have demonstrated a range of positive social outcomes, their potential contribution to place‐based efforts addressing ...
Brydie‐Leigh Bartleet   +6 more
wiley   +1 more source

Advancing Understanding of Subjective Liveability for People With Disability

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Modern liveability frameworks aim to enhance health and well‐being through equity‐based measures across built, natural, social, and economic environments, yet they often overlook the perspectives of people with disability. This study explored expectations of liveable neighbourhoods among adults with diverse disability experiences in urban and ...
Maria Hobbs   +3 more
wiley   +1 more source

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