Results 141 to 150 of about 1,049,732 (281)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot +10 more
wiley +1 more source
On the Prospects for African Philosophy in Australia
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
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Australian Journal of Social Issues, EarlyView.ABSTRACT This paper applies Critical Race Theory (CRT) to explore how whiteness operates within Australia's anti‐racism movement as a structuring force that shapes discourse, practice and policy. Despite the anti‐racism movement offering crucial spaces for resistance and reform, it remains entangled in Australia's settler‐colonial present and systemic ...
Franka Vaughan, Aish Ravi
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Education is a central mechanism for ensuring that Indigenous–State treaties are understood, supported and endure through political change. Public knowledge shapes the negotiation, acceptance, implementation and long‐term stability of agreements. In Australia, however, treaty knowledge remains fragmented.
Jacob Prehn, Harry Hobbs, Jessica Horton
wiley +1 more source
Annals of Neurology, EarlyView.Objective Memory impairment is a frequent comorbidity of focal epilepsy, incompletely explained by seizure frequency or structural pathology. Ictal and postictal hippocampal dysfunction disrupt memory processes, but their cumulative impact remains poorly quantified.
Ionuț‐Flavius Bratu +5 more
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Evaluating the impact of restored nonverbal communication on medical service quality and patient loyalty in the post-pandemic era. [PDF]
Front Public HealthKim J, Wen L, Lim S.
europepmc +1 more source
The Anatomical Record, EarlyView.Comparative histological and semi‐automated image analysis of primate lips: Masson's trichrome‐stained sagittal sections were segmented to quantify the connective tissue, adipose, and muscular components, enabling interspecific comparisons of labial architecture.
Liat Rotenstreich +5 more
wiley +1 more source