American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
Recognition and Explainable Quantitative Evaluation of Fundamental Taekwondo Kicks from Smartphone Videos. [PDF]
Sensors (Basel)Wang Z, Sun S, Liang X, Chen L.
europepmc +1 more source
An Empirical Study of Realized GNN Expressiveness
Research on the theoretical expressiveness of Graph Neural Networks (GNNs) has developed rapidly, and many methods have been proposed to enhance the expressiveness.
Wang, Yanbo, Zhang, Muhan
core
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
Self-efficacy and Communication in Health Personnel After Simulation Training in Cardiopulmonary Resuscitation: A Quasi-experimental Study. [PDF]
InquiryPérez-Fuentes MDC +5 more
europepmc +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT The rapid increase in older people in prison populations worldwide is generating significant health, cost, and human rights pressures on custodial systems. Compassionate release for older, frail inmates is a potentially effective response, yet little is known about public support for this approach.
Ye In (Jane) Hwang +3 more
wiley +1 more source
Relationship between emotional competence, dissociative symptoms and borderline personality disorder traits in female adolescents engaging in non-suicidal self-injury. [PDF]
Child Adolesc Psychiatry Ment HealthOtto A +4 more
europepmc +1 more source
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 +5 more
wiley +1 more source
Examining mediating pathways among factors associated with adolescent dissociative experiences: a gender-stratified structural equation modeling analysis. [PDF]
BMC PsycholCheng Q, Jin H, Deng Y, Chen J, Wang L.
europepmc +1 more source