Results 81 to 90 of about 210,629 (339)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Developing ODP student placements [PDF]

, 2014
In a similar way to nursing and other health professions, elements of the education of operating department practitioners (ODPs) can only be contextualised by clinical practice involvement (Stockhausen and Strutt, 2005; Higginson, 2006; Morgan, 2006 ...
Eraut M, Maslow A, Melia K, Pollit D, Stockhausen LJ   +4 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source

Socialisation and its effect on play behaviour and aggression in the domestic pig (Sus scrofa)

Scientific Reports, 2019
There is considerable interest in how early life experiences shape behavioural development. For example, the socialisation of unfamiliar pigs pre-weaning has been suggested to decrease aggression during later life.
Jennifer E. Weller, I. Camerlink, S. Turner, M. Farish, G. Arnott   +4 more
semanticscholar   +1 more source

‘I Don't Babysit’: Stay‐at‐Home Dads' Perspectives and Experiences Within Australian Society

Australian Journal of Social Issues, EarlyView.
ABSTRACT Stay‐at‐home‐dads are an emerging group in Australia, impacted by societal assumptions and expectations. However, there is a scarcity of research on the perspectives and experiences of fathers assuming stay‐at‐home dad roles within Australian society.
Elyse Manie, Patricia Taylor, Hayley McKenzie, Norma Barrett   +3 more
wiley   +1 more source

Professional socialisation, accountability and social media: what’s the relationship and should we care? [PDF]

, 2017
BACKGROUND: The rapid diffusion of social network sites such as Facebook have presented a wealth of challenge and opportunity for the nursing profession.
Ryan, Gemma Sinead
core  

Unexpected changes of itinerary: adaptive functioning difficulties in daily transitions for adults with autism spectrum disorder [PDF]

, 2016
Adaptive functioning skills, also known as adaptive behaviours, refer to a multifaceted concept defined as behaviours necessary for age-appropriate, independent functioning in social, communication, daily living, or motor areas.
Rydzewska, Ewelina
core   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
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