Results 181 to 190 of about 87,759 (313)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Lessons learned from longitudinal biomonitoring and birth cohort studies: informing the future of reproductive health research in Canada. [PDF]

open access: yesEnviron Health
Ashley-Martin J   +28 more
europepmc   +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

Nothing to See Here: Researching Non‐Recent Child Abuse in Schools and the Politics of Silence

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT While institutions, including schools, have responsibilities to protect children from harm, responses to instances of child sexual abuse have often exhibited avoidance and denial. Recent public inquiries in Australia revealed that some institutions, particularly in the Catholic sector, employed a deliberate strategy of silence which was used ...
John Crowley   +2 more
wiley   +1 more source

Trends in the Range of Zero Alcohol Products Available in Supermarkets and Alcohol Stores in Australia. [PDF]

open access: yesDrug Alcohol Rev
Pettigrew S   +9 more
europepmc   +1 more source

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

open access: yesAustralian 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

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