Results 221 to 230 of about 1,953,986 (355)

Outcomes from a Novel Approach to Studying Consumer Genetic Testing for Germline Cancer and Cardiovascular Risk

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the growing availability of consumer genetic testing for serious disease risks, outcomes data remain limited for individuals undergoing testing for high‐ and moderate‐penetrance genes. To address this gap, we evaluated the feasibility of the Consumer Genetic Testing Outcomes Evaluation Paradigm (CGT‐OEP), a novel approach for studying ...
Madison K. Kilbride   +6 more
wiley   +1 more source

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

A scoping review of non‐binary research in “Australian” social sciences: Community, solidarity, resilience and resisting marginalisation

open access: yesAustralian Journal of Social Issues, EarlyView.
Abstract Non‐binary and genderqueer identities are increasingly discussed in public discourse and academia, but there remains a dearth of academic literature centred on non‐binary people's lives and experiences. When non‐binary people are included in research, it is frequently as an additive to explorations of trans identities and subsumed under the ...
Lucy Nicholas, Sal Clark, Chloe Falzon
wiley   +1 more source

Participatory Policy Development: Reflections on Designing the Strong Roots for Our Futures Program in Victoria

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT In this paper, we trace the journey to create the Strong Roots for our Futures Program, a government program to resource and support Traditional Owners to undertake a range of activities in areas where no state recognition existed. We provide a background to state recognition in Victoria before considering the program design, leading to an ...
Nell Reidy   +2 more
wiley   +1 more source

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