Results 31 to 40 of about 27,492 (256)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Australia's Migration Strategy: An Effective Response to Migrant Worker Exploitation?

Australian Journal of Social Issues, EarlyView.
ABSTRACT A series of publicised migrant worker injuries and deaths has drawn attention to the issue of migrant worker exploitation (MWE) in Australia. In response, the Australian Government has included ‘Tackling Worker Exploitation’ as a key area of its Migration Strategy which it introduced in 2023. However, it is unclear how effective the Strategy’s
Evelyn Dowling, Alexandra Ridgway
wiley   +1 more source

A National Survey of Informal Supporters' Experiences and Views of Behaviour Support Practitioners in the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study examines informal supporters' experiences and views of NDIS behaviour support practitioners, including engagement, information needed to support selection, and perceptions of practitioners' knowledge, skill, and practice. It reports data from a cross‐sectional online survey of 123 informal support providers of participants receiving
Alinka Fisher, David P. Nicoll, Irene Belperio, Maverick Clissold, Aiden Osborne, Russ Fox, Erin Leif, Keith McVilly   +7 more
wiley   +1 more source

Body donor programs in Australia and New Zealand: Current status and future opportunities

Anatomical Sciences Education, Volume 18, Issue 3, Page 301-328, March 2025.
Abstract Body donation is critical to anatomy study in Australia and New Zealand. Annually, more than 10,000 students, anatomists, researchers, and clinicians access tissue donated by local consented donors through university‐based body donation programs. However, little research has been published about their operations.
Rebekah A. Jenkin, Kevin A. Keay
wiley   +1 more source

Educational philosophising in the Everyday: UK immigrant mothers navigating identity and praxis during COVID‐19

British Educational Research Journal, EarlyView.
Abstract Debates surrounding motherhood have long centred on women's roles as carers. Although motherhood is now more widely recognised within feminist scholarship, it often remains conceptually separate from identities associated with formal educational discourse.
Lavinia Kamphausen, Aliya Khalid, Nadia Uddin‐Talukder, Uzma Dayan   +3 more
wiley   +1 more source

HOW FREQUENT ARE CONSANGUINEOUS MARRIAGES?

Journal of the Dow University of Health Sciences, 2008
Objective: To determine the frequency of consanguineous marriages in parents and grand parents of alladmitted children in a pediatric unit Design: An observational study.
D. S. Akram, Fehmina Arif, Jabeen Fayyaz Fayyaz   +2 more
doaj   +4 more sources

Locked in Transition: Examining the Role of Paradoxical Tensions in the Transition From Industrial Cluster to Eco‐Clusters

Business Strategy and the Environment, EarlyView.
ABSTRACT Industrial clusters are central to the circular economy transition, yet how they develop into eco‐clusters and the paradoxical tensions this transformation fuels remain underexplored. Drawing on 48 in‐depth interviews and secondary data from a Turkish textile‐recycling cluster, we develop an empirically grounded model of eco‐cluster transition
Tulin Dzhengiz, Leona A. Henry, Simon M. Smith   +2 more
wiley   +1 more source

Synergies and Trade‐Offs in Circular Economy and Community Development Nexus: Pathways to Local Sustainability

Corporate Social Responsibility and Environmental Management, EarlyView.
ABSTRACT Recent scholarship shows growing interest in the circular economy (CE) approach, which promotes resource‐efficient, community‐friendly activities. However, scientific evidence is still needed on the synergies and trade‐offs between CE and community development (CD).
Michael Odei Erdiaw‐Kwasie, Matthew Abunyewah, Kerstin Zander, Patrick Arhin, Amila Kasun Sampath Udage Kankanamge, Walter Leal Filho, Khorshed Alam   +6 more
wiley   +1 more source

Greenwashing in the Spotlight: Synthesising Evidence on Unethical Environmental Claims and Future Pathways

Corporate Social Responsibility and Environmental Management, EarlyView.
ABSTRACT Firms are experiencing mounting pressure to report their environmental impact. Rather than disclosing their actual performance, however, some are engaging in unethical business (i.e., greenwashing) practices. Prior studies have contributed significantly to the greenwashing literature from varied perspectives, but a comprehensive understanding ...
Sher Jahan Khan, Norah Albishri, Bhumika Gupta, Piera Centobelli, Manlio Del Giudice   +4 more
wiley   +1 more source