Results 191 to 200 of about 240,982 (339)

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, Volume 200, Issue 10, Page 2289-2308, October 2026.
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

Electrophysiological responses in relation to speech perception in children with cochlear implants [PDF]

open access: diamond
Hend F. Alshabory   +3 more
openalex   +1 more source

History of cochlear implants

open access: yesBrazilian Journal of Otorhinolaryngology, 2015
openaire   +4 more sources

Gene therapy for hereditary deafness: Progress, challenges and translational implications from OTOF to GJB2

open access: yesClinical and Translational Discovery, Volume 6, Issue 5, October 2026.
Current Management & Limitations: Traditional auditory devices lack genetic curative potential and yield variable, non‐physiological hearing outcomes. OTOF gene therapy has shown promising clinical outcomes with dual‐AAV therapy. GJB2 gene therapy remains an emerging approach with significant translational challenges. Advances in vector design and cell‐
Jiahui Zhao, Mengzhao Xun, Yu Sun
wiley   +1 more source

Understanding the Symptom Burden of Complex Skull Base Tumors From the Patient's Perspective

open access: yesHead &Neck, Volume 48, Issue 10, Page 2720-2732, October 2026.
ABSTRACT Background Symptom burden of skull base tumor (SBT) patients, especially those undergoing multimodality treatment, is poorly understood. We aim to understand symptom burden in this patient group using the core module the MD Anderson Symptom Inventory (MDASI).
Shirley Y. Su   +8 more
wiley   +1 more source

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