Results 131 to 140 of about 3,972,400 (287)

Wilson disease

open access: yesMedical Electron Microscopy, 2002
Wilson disease is an autosomal recessive inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion from hepatocytes. Recently, novel components involved in copper metabolism, including Menkes disease protein (ATP7A), Wilson disease protein (ATP7B), and copper chaperones ...
openaire   +3 more sources

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde   +12 more
wiley   +1 more source

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

open access: yesAustralian 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   +3 more
wiley   +1 more source

‘People Need to Understand That They Are Stealing From Their Neighbours’: A Critical Media Analysis of the Representations and Resistance Throughout the Robodebt Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Robodebt scheme issued thousand‐dollar debts to an estimated half a million people who had received social security. The debts were largely inaccurate and illegal, with the aim of improving the federal government's budget. The 2023 Royal Commission into the Robodebt Scheme found that the stigmatising political and public language about ...
Ella Kruger, Phillipa Evans
wiley   +1 more source

Progress on the Microscopic Spectrum of the Dirac Operator for QCD with Wilson Fermions

open access: yes, 2011
Starting from the chiral Lagrangian for Wilson fermions at nonzero lattice spacing we have obtained compact expressions for all spectral correlation functions of the Hermitian Wilson Dirac operator in the $\epsilon$-domain of QCD with dynamical quarks ...
Splittorff, K., Verbaarschot, J. J. M.
core  

Expectations and Reality: The Lived Experiences of Australians With Psychosocial Disability Within the NDIS

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT While Australia's National Disability Insurance Scheme (NDIS) was founded on principles of choice and control, for people with significant mental health challenges (what the NDIS calls ‘psychosocial disability’) these ideals often remain elusive. Support systems continue to be fractured and in the context of ongoing policy reforms, it is vital
Joel Hollier, Jennifer Smith‐Merry
wiley   +1 more source

Stereoselective Biotransformation: Transfer of Learning to Advance Drug Metabolism and Biocatalysis

open access: yesAngewandte Chemie, EarlyView.
Understanding stereoselective biotransformations has implications for predicting drug disposition and response and may also inspire novel biocatalytic and biomimetic strategies to address challenges in metabolite and API synthesis. ABSTRACT Chirality is an important determinant of drug action, as enantiomers can exhibit markedly different ...
Grace A. Okunlola, Godwin A. Aleku
wiley   +2 more sources

Barriers and Enablers for Effective Support Coordination in the National Disability Insurance Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Support coordinators act as intermediaries between the National Disability Insurance Scheme (NDIS) and participants, facilitating access to funded supports. To optimise outcomes, they must navigate NDIS complexities, identify services that meet individual needs and engage with diverse stakeholders.
Sharyn McDonald   +3 more
wiley   +1 more source

Radical‐Based On‐Surface Transformation of Nonplanar Aromatics Into Nonbenzenoid Nanographenes

open access: yesAngewandte Chemie, EarlyView.
Formation of radicals in nonplanar hydrocarbons through thermally induced dehydrogenation leads to molecular transformation via intramolecular radical‐based cyclization and dimerization, leading to formation of nonbenzenoid nanographenes. ABSTRACT On‐surface synthesis has emerged as a powerful tool for atomically precise C─C bond formation, enabling ...
Daniel Rothhardt   +8 more
wiley   +2 more sources

An atypical case of viral panuveitis and retinal vasculitis with retrograde extension associated with human herpesvirus-6

open access: yesAmerican Journal of Ophthalmology Case Reports, 2022
Craig S. Schallhorn   +5 more
doaj   +1 more source

Home - About - Disclaimer - Privacy