Results 221 to 230 of about 23,141,464 (287)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Central auditory system assessment in children and adolescents with cystic fibrosis: electrophysiology and central auditory processing. [PDF]

J Pediatr (Rio J)
Martins-Duarte PM, Hessel G, Ribeiro AF, Lima Marson FA, Colella-Santos MF.   +4 more
europepmc   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Audiological Tests Used in the Evaluation of the Effects of Solvents on the Human Auditory System: A Mixed Methods Review.

Semin Hear, 2023
Roggia SM, Zucki F, Fuente A, Lacerda ABM, Gong W, Carlson K, Morata TC.   +6 more
europepmc   +1 more source

Placing Rural in the National Disability Insurance Scheme Review

Australian Journal of Social Issues, EarlyView.
ABSTRACT The National Disability Insurance Scheme is considered Australia's landmark disability support policy reform. The Scheme's implementation has revealed several benefits but also critical shortcomings. The Scheme's benefits have not been equitably distributed with people living in regional, rural and remote areas receiving less.
Claire Quilliam, Luke Wakely, Louise French, Natalie Ellis, Robyn McNeil, Tony Fallon, Michelle Kersten, Kerryn Bagley, Jo Spong, Robyn Doney, Casey Stubbs, Alison Devitt, Carol McKinstry   +12 more
wiley   +1 more source

The human auditory system uses amplitude modulation to distinguish music from speech. [PDF]

PLoS Biol
Chang A, Teng X, Assaneo MF, Poeppel D.
europepmc   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Hierarchical differences in the encoding of sound and choice in the subcortical auditory system.

J Neurophysiol, 2023
Mackey CA, Dylla M, Bohlen P, Grigsby J, Hrnicek A, Mayfield J, Ramachandran R.   +6 more
europepmc   +1 more source

Estradiol treatment and hormonal fluctuations during the estrous cycle modulate the expression of estrogen receptors in the auditory system and the prepulse inhibition of acoustic startle response.

Endocrinology, 2012
K. Charitidi, I. Meltser, B. Canlon
semanticscholar   +1 more source