Results 161 to 170 of about 76,904 (360)

Efficacy in noise of the Starkey Surflink Mobile 2 technology in directional versus omnidirectional microphone mode with experienced adult hearing aid users [PDF]

open access: yes, 2016
The Starkey SurfLink Mobile 2 is a remote microphone accessory. Starkey claims that by placing the SurfLink’s internal microphone in the directional microphone setting, the participant will hear better in noise over the omnidirectional setting.
Beal, Taylor Rae
core   +1 more source

X-LINKED CONGENITAL ADRENAL HYPOPLASIA, GONADOTROPIN DECICIENCY AND HIGH FREQUENCIES SENSORINEURAL HEARING LOSS [PDF]

open access: bronze, 1993
R Balducci   +7 more
openalex   +1 more source

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

open access: yesClinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis   +14 more
wiley   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca   +13 more
wiley   +1 more source

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome

open access: yesClinical Genetics, EarlyView.
Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato   +15 more
wiley   +1 more source

Implication of GPRASP2 in the Proliferation and Hair Cell‐Forming of Cochlear Supporting Cells

open access: yesCell Proliferation, EarlyView.
Schematic diagram of GPRASP2‐mediated SCs proliferation and HCs formation. GPRASP2 deficiency results in increased lysosomal degradation of SMO. GPRASP2‐mediated SMO/GLI1 signalling promotes SC proliferation, which contributes to HC formation. GPRASP2‐mediated SMO/β‐catenin signalling is implicated in HCs fate specification and differentiation ...
Jing Cai   +9 more
wiley   +1 more source

Single‐Nucleus Transcriptomics Uncovers Xaf1‐Driven PANoptosis as a Therapeutic Target in Aminoglycoside‐Induced Hearing Loss

open access: yesCell Proliferation, EarlyView.
Neomycin induces increased expression of Xaf1 in cochlear HCs, triggering PANoptosis, which encompasses pyroptosis, apoptosis and necroptosis (left). Targeted Xaf1 knockdown in HCs through gene therapy can significantly inhibit the occurrence of PANoptosis in HCs (right).
Xinlin Wang   +10 more
wiley   +1 more source

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