Results 211 to 220 of about 416,762 (282)

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga   +36 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

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan   +13 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Social Determinants of Health and Health‐Related Quality of Life: The Potential Mediating Role of Social Activities, Access to Medical Services, and Access to Social Services

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This study explored the mediating influences of access to social activities, social services, and health and medical services on the relationship between social determinants of health and health‐related quality of life. A survey of 602 adults was conducted in a regional area of Australia.
Candice Oster   +4 more
wiley   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

‘People Need to Understand That They Are Stealing From Their Neighbours’: A Critical Media Analysis of the Representations and Resistance Throughout the Robodebt Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Robodebt scheme issued thousand‐dollar debts to an estimated half a million people who had received social security. The debts were largely inaccurate and illegal, with the aim of improving the federal government's budget. The 2023 Royal Commission into the Robodebt Scheme found that the stigmatising political and public language about ...
Ella Kruger, Phillipa Evans
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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