Results 51 to 60 of about 11,182 (253)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos, Natasha Monte, Kaio Evandro Cardoso Aguiar, Rita de Cássia Calderaro, Aline Pasquini Santos, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐Dos‐Santos, Sandro José De Souza, Ândrea Ribeiro‐Dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista Dos Santos, Ney Pereira Carneiro Dos Santos   +11 more
wiley   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

Australian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton, Tania Signal, Jenni A. Judd   +2 more
wiley   +1 more source

Supporting students in professional socialisation: Guidelines for professional nurses and educators

International Journal of Africa Nursing Sciences, 2017
Professional socialisation of nursing students involves learning skills, attitudes, behaviour and professional roles, largely in the clinical area. During clinical accompaniment and reflective discussions with a group of undergraduate Baccalaureate ...
Hester Cathrina (Rina) de Swardt, Gisela H. van Rensburg, M.J. Oosthuizen   +2 more
doaj   +1 more source

Implementing Indigenous Data Sovereignty in Australia: A Five‐Phase Framework for Indigenous Data Governance

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn, Michael A. Guerzoni, Maggie Walter, Gawaian Bodkin‐Andrews, Bobby Maher   +4 more
wiley   +1 more source

An exploratory fMRI study on the association of parental involvement in childcare with brain responses to infant vocalisations and dyadic interaction quality in same-sex mother families

BMC Psychology
It is of the utmost importance that children receive an appropriate adult response in order to ensure optimal child development. Prior research on parental brain networks has demonstrated that maternal brain activation in response to infant vocalisations
Paola Rigo, Michele Giannotti, Bianca Filippi, Alessandra Simonelli, Micol Gemignani, Silvia Perzolli, Paola Venuti, Simona de Falco   +7 more
doaj   +1 more source

Has Inequity Faced by Young Australians With Disability Changed Since the Turn of the Century?

Australian Journal of Social Issues, EarlyView.
ABSTRACT Despite the introduction of various policies aimed at promoting equality for people with disability since Australia ratified the Convention on the Rights of People with Disabilities (CRPD) in 2008, there has been little evaluation regarding the extent of change in inequity since then.
Asha Parkinson, Joanne Arciuli, Eric Emerson, Sally Robinson, Sally Chance, Gerry Redmond   +5 more
wiley   +1 more source

Australian Activists as Storytellers in Digital Spaces: Acquiring Skills, Producing Content and Getting the Message Out

Australian Journal of Social Issues, EarlyView.
ABSTRACT As modes of activism rapidly evolve, activists—both seasoned and emerging—must increasingly navigate a hybrid terrain of both digital and non‐digital engagement. This paper draws on the personal narratives of 16 nascent activists based in Australia to explore how they develop competencies related to digital storytelling, which is critical to ...
Garth Stahl, Miri Yemini, Claire Maxwell, Yating Hu, Benjamin Adams, Sarah Bergen   +5 more
wiley   +1 more source

Gamified learning meets physiology: Healthcare students' gameful experience with a virtual educational escape room

Anatomical Sciences Education, EarlyView.
Abstract Gamified teaching approaches are increasingly used in higher education, making it essential to examine the gameful experience resulting from interaction with educational game elements. This study aimed to evaluate undergraduate health science students' gamified learning experience using the Gamified Experience Measurement Scale in Education ...
David Martin‐Hidalgo, Guadalupe Álvarez‐Hernán, Cristina Carrasco Romero, Violeta Calle‐Guisado   +3 more
wiley   +1 more source