Results 101 to 110 of about 46,930 (256)

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer   +4 more
wiley   +1 more source

Experiencing the Tangible Past through Virtual Reconstruction: Cultural Heritage of Buildings and their Environmental Boundaries

open access: yesArcheomatica, 2013
Accurate reconstruction and representation of cultural heritage buildings within virtual environment using auralization and visualization techniques are presented.
Mojtaba Navvab   +2 more
doaj  

Highly compromised auditory spatial perception in aided congenitally hearing-impaired and rapid improvement with tactile technology

open access: yesiScience
Summary: Spatial understanding is a multisensory construct while hearing is the only natural sense enabling the simultaneous perception of the entire 3D space.
Adi Snir   +3 more
doaj   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa   +3 more
wiley   +1 more source

Conceptualising quality early childhood education: Learning from young children in Brazil and South Africa through creative and play‐based methods

open access: yesBritish Educational Research Journal, EarlyView., 2023
Abstract Early childhood has increasingly been acknowledged as a vital time for all children. Inclusive and quality education is part of the United Nations Sustainable Development Goals, with the further specification that all children have access to quality pre‐primary education.
Laura H. V. Wright   +8 more
wiley   +1 more source

Participatory Policy Development: Reflections on Designing the Strong Roots for Our Futures Program in Victoria

open access: yesAustralian 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

Evaluating Auditory Localization Capabilities in Young Patients with Single-Side Deafness

open access: yesAudiology Research
Background/Objectives: Unilateral hearing loss (UHL), particularly single-sided deafness (SSD), disrupts spatial hearing in children, leading to academic and social challenges.
Alessandro Aruffo   +5 more
doaj   +1 more source

Home - About - Disclaimer - Privacy