Results 121 to 130 of about 439 (243)

Modeling Binaural Perception Based on the Complex Correlation Coefficient [PDF]

open access: yes
Binaural hearing, or the benefit from listening with two ears, contributes to spatial hearing, helping to perceptually segregate competing sound sources. This facilitates navigation, orientation, and communication in challenging acoustic situations.
Eurich, Bernhard
core  

Logi Buds : Hearable for new Experiences

open access: yes, 2020
Technology plays a big part in our lives, and our phones give us access to it anytime and anywhere. As technology becomes more and more integrated into everything we do, it can sometimes distract us from the things that matter the most to us. Logi Buds is a hearable concept made to bring in new experiences that could help reduce screen dependency in ...
openaire   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

HEAR-BRUX: HEARable for handling BRUXism

open access: yes
Bruxism is a parafunctional oral behavior that can occur during sleep (sleep bruxism) or wakefulness (awake bruxism). Bruxism is characterized by teeth grinding and jaw clenching. It can lead to various health consequences such as tooth fracture, tooth wear, and muscle fatigue.
openaire   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Dr Phil Kinsella and Damien Png, 2019

open access: yes, 2019
Dr Phil Kinsella (left) completed his PhD at Swinburne and is now working with Damien Png (right) to commercialise Hearables 3D. Photograph originally appeared in the Media Centre Release, 'Swinburne 3D printing technology is shaking up personalised ...
Swinburne University of Technology
core  

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas   +6 more
wiley   +1 more source

Advancing Clinical Research

open access: yes
Advanced Science, EarlyView.
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda   +5 more
wiley   +1 more source

Home - About - Disclaimer - Privacy