Results 231 to 240 of about 825,232 (363)

Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this Chinese family with hereditary deafness, we identified a novel DIAPH3 point variant (NM_001042517.2:c.1472A>G). This variant manifests as late‐onset progressive sensorineural hearing loss, with congruent pure‐tone audiometry (PTA) and auditory brainstem response (ABR) thresholds.
Lingling Zeng   +8 more
wiley   +1 more source

Bony cochlear nerve canal in children with bilateral profound sensorineural hearing loss – a pilot study

open access: diamond, 2021
Marija Dokoska   +3 more
openalex   +2 more sources

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Minigene splicing assays elucidated the pathogenicity of a novel intronic c.3717+5G>A mutation in the PCDH15 gene, which was identified in a family affected by Usher syndrome type 1F. The results demonstrated that the c.3717+5G>A mutation can lead to exon 27 skipping and retention of 51 bp at the 5′ end of intron 27, resulting in truncated or abnormal ...
Qifan Ma   +3 more
wiley   +1 more source

Modeled auditory nerve responses to amplitude modulated cochlear implant stimulation

open access: bronze, 2017
M.J. van Gendt   +3 more
openalex   +2 more sources

The Petrosquamous Septum in Children—A Misleading Obstacle or Reliable Landmark? A Radioanatomical Study

open access: yesOtolaryngology–Head and Neck Surgery, Volume 174, Issue 1, Page 246-256, January 2026.
Abstract Objective To evaluate the petrosquamous septum in children under 5 years of age and its usefulness as a surgical landmark using computed tomography (CT); to identify petrosquamous stalactite and its relationship to the ossicular chain and external acoustic meatus is also described. Study Design Retrospective review of CT scans.
Tomasz Wojciechowski   +2 more
wiley   +1 more source

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