Results 181 to 190 of about 166,190 (339)

Neurovascular compression and vestibular compromises in idiopathic sudden sensorineural hearing loss. [PDF]

open access: yesActa Otorhinolaryngol Ital
Liu Y   +7 more
europepmc   +1 more source

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort [PDF]

open access: gold, 2018
Simone da Costa e Silva Carvalho   +6 more
openalex   +1 more source

Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss. [PDF]

open access: yesRadiol Case Rep
Ouqlani C   +6 more
europepmc   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

open access: yesJournal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng   +9 more
wiley   +1 more source

Large Vestibular Aqueduct Syndrome Causing Progressive Hearing Loss in Childhood Article

open access: yesPakistan Journal of Medicine and Dentistry
Background: Sensorineural hearing loss in adults is commonly associated with aging, trauma or autoimmune disease. In children, however, sensorineural hearing loss can also be due to genetic causes, leading to malformation of internal ear structures ...
Salman Baig   +3 more
doaj  

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Diane Margoses   +19 more
wiley   +1 more source

Lymphocyte-to-monocyte ratio as a clinical predictor in sudden sensorineural hearing loss. [PDF]

open access: yesBraz J Otorhinolaryngol
Onan E   +8 more
europepmc   +1 more source

DEVELOPMENTAL DYSPHASIA AND SENSORINEURAL HEARING LOSS: A CASE STUDY OF MULTIDISCIPLINARY INTERVENTION IN SCHOOL-AGED CHILD [PDF]

open access: diamond
Ilona Pešatová   +5 more
openalex   +1 more source

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