Results 241 to 250 of about 1,519,343 (314)

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca, Donatella Milani, Chiara Ranci Ortigosa, Maria Iascone, Lucrezia Goisis, Annalaura Torella, Maria Antonella Costantino   +8 more
wiley   +1 more source

Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study. [PDF]

Neurology
Domínguez-González C, Chiang C, Colson AO, Rebollo Mesa I, Baixauli E, Quan J, VanMeter S, Hirano M.   +7 more
europepmc   +1 more source

Learning from the best: examples of best practice from providers of apprenticeships in under performing vocational areas [PDF]

, 2010

core  

Don't Worry About Her; Intersectionality, and the Role of Systems and Structures in the Embodied Experiences of Young Women's Use of Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak, Tamara Blakemore, Elsie Randall, Meaghan Katrak Harris   +3 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

Predicting autism spectrum disorder severity in children based on specific language milestones: a random forest model approach. [PDF]

Child Adolesc Psychiatry Ment Health
Xiong H, Xiang X, Liu X, Yang T, Chen J, Chen J, Li T.   +6 more
europepmc   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source

Eladocagene Exuparvovec for the Treatment of Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective. [PDF]

Pharmacoeconomics
Zhang R, O'Connell T, Monteleone B, Teng Y, Hwu PW, Castellano P, Tomazos I.   +6 more
europepmc   +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

Dyke-Davidoff-Masson Syndrome in Pediatrics: Case Report of Atypical Status Epilepticus and Therapeutic Challenges in the Caribbean. [PDF]

Case Rep Med
Martín-Sanz MB, Lucas-Muñoz D, Colomé-Hidalgo M, Vásquez-Gómez G.   +3 more
europepmc   +1 more source