Results 141 to 150 of about 223,137 (327)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Supported Decision‐Making Rights in Behaviour Support Policies

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Disability policy emphasises that people with disability have the right to exercise their will and preferences in their lives, and decision‐making support must be provided to realise this right if they request. One context in which people's will and preferences are often restricted is behaviour support.
Sally Robinson   +6 more
wiley   +1 more source

Culturally Safe Assistive Technology Provision in Australia: Concept Mapping Perspectives From Aboriginal and Torres Strait Islander People

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Disparities in Assistive Technology (AT) access exist for Aboriginal and Torres Strait Islander peoples despite recent policy reforms. This paper brings together First Nations and Western academic ways of being, knowing and doing to deliver an AT practice analysis based upon primary data from two research reports into the cultural safety of AT
Shane Hearn   +6 more
wiley   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp   +12 more
wiley   +1 more source

An Estimation of Benefits Associated with the Wyoming State Snowmobile Trails Program [PDF]

open access: yes
Resource /Energy Economics and Policy,
Bastian, Christopher T.   +3 more
core   +1 more source

Technobiological Pathways for High‐CO₂ Capture Using Micro‐/Macroalgae: Genetic Engineering, Process Automation, and Value‐Added Bioproducts

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Greenhouse gas (GHG) emissions have emerged as one of the most critical drivers of climate change; this is primarily due to high concentrations and long atmospheric life of carbon dioxide (CO2). For a significant amount of time, various biological processes such as microalgal cultivation, cyanobacterial systems, photosynthetic microorganisms ...
Sadhana Semwal, Harish Chandra Joshi
wiley   +1 more source

Cryogenic mechanisms for scanning and interchange of the Fabry-Perot interferometers in the ISO long wavelength spectrometer [PDF]

open access: yes
The Infrared Space Observatory (ISO) is an ESA cornerstone mission for infrared astronomy. Schedules for launch in 1993, its four scientific instruments will provide unprecedented sensitivity and spectral resolution at wavelengths which are inaccessible ...
Davis, G. R.   +4 more
core   +1 more source

Work Versus Force: Simultaneous Processes for Describing Interactions

open access: yesAdvanced Physics Research, EarlyView.
ABSTRACT Achieving a unified description of interactions remains an open challenge in theoretical physics, which currently describes four fundamental forces. This situation may be viewed differently when interactions are formulated in terms of processes (work as actio) rather than forces (force as actio), not only at the macroscopic level but also at ...
Grit Kalies   +2 more
wiley   +1 more source

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