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 +16 more
wiley +1 more source
Patient and Public Involvement (PPI) in lab-based research. What is the added value? Reflections from a researcher and public contributor perspective. [PDF]
Res Involv EngagemHatch S, Formosa N.
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley +1 more source
Family collective agency in career decision-making among medical and dental students: a qualitative intersectional study in Peshawar, Pakistan. [PDF]
Front Med (Lausanne)Qazi S +10 more
europepmc +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT In this paper, we trace the journey to create the Strong Roots for our Futures Program, a government program to resource and support Traditional Owners to undertake a range of activities in areas where no state recognition existed. We provide a background to state recognition in Victoria before considering the program design, leading to an ...
Nell Reidy +2 more
wiley +1 more source
Operationalising readiness for practice in final OSCEs: insights from a mixed-methods study across five Australian medical schools. [PDF]
BMC Med EducMalau-Aduli BS +5 more
europepmc +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
Underdog Expectations and Employees' Interpersonal Counterproductive Work Behavior: The Mediating Roles of Perceived Insider Status and Moral Disengagement. [PDF]
Behav Sci (Basel)Qian H, Cheng J, Yuan Y, Zhang T.
europepmc +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT In her 2024 paper Are Australian students' academic skills declining? Interrogating 25 years of national and international standardised assessment data, Larsen compiled an impressive summary of major international (PISA, PIRLS and TIMSS) and national (NAPLAN) standardised assessments pertaining to literacy and numeracy.
Pamela C. Snow +9 more
wiley +1 more source
Subjectivity in Entrustment Decision-Making in the Clinical Workplace: Can We Retain Its Legitimacy But Avoid Bias? [PDF]
Med Sci EducWilma Kleijer EF +3 more
europepmc +1 more source