Results 101 to 110 of about 360,050 (217)

Research on Non-verbal Signs of Lies and Deceit: A Blind Alley

Frontiers in Psychology, 2020
Tim Brennen, Svein Magnussen
doaj   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

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

American 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

Building Community Amidst the Institutional Whiteness of Graduate Study: Black Joy and Maroon Moves in an Academic Marronage

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi, Casianus Gemoh, Denise Chapman, Edmund Hypolite, Simon Angok, Melanie Baak, Joel Windle   +6 more
wiley   +1 more source

Caricature as interaction of verbal and non-verbal sign systems

Russian Language Studies, 2013
The article characterizes caricature as a creolized text being created with the help of interaction of verbal and non-verbal sign systems.
E V Talybina, N A Minakova
doaj  

‘Hurry Up and Get Me out of Here’: The Experience of People Under 65 Years (Still) Stuck in Aged Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Following the Royal Commission into Aged Care Quality and Safety, the Australian Government set a target for no‐one under 65 years of age to be living in residential aged care (RAC) by 2025. The numbers of young people in residential aged care (YPIRAC) have significantly declined since the start of the targets.
Elroy Dearn, Kate D'Cruz, Mark Brown, Jacinta Douglas, Dianne Winkler   +4 more
wiley   +1 more source

Family Dispute Resolution in Australia: The Under‐Servicing of Indigenous, Migrant and Refugee Families Experiencing Family Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Improving access to legal services for Indigenous, migrant and refugee women is critical to addressing family violence. In this context, Family Dispute Resolution (FDR) has long been discussed as a solution for separating families. This paper presents key findings of a research evaluation of an Australian Government $8.37 million pilot project
Siobhan McDonnell, Alyson Wright
wiley   +1 more source

‘We Are Australia’: Unpacking Aboriginal and Torres Strait Islander People's Understandings and Experiences of Australian Identity

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander people are the oldest living custodians in the world. However, Australian identity has been purposefully established to exclude Aboriginal and Torres Strait Islander people, contributing to systemic oppression and harmful consequences. Understanding the perspectives and experiences of Aboriginal and Torres
Jack Farrugia, Jonathan Bullen
wiley   +1 more source