Results 171 to 180 of about 73,057 (270)

Sensorineural Hearing Loss. [PDF]

open access: yesAnnals of Internal Medicine, 1971
G E W Wolstenholme, J Knight
openaire   +2 more sources

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison   +3 more
wiley   +1 more source

A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome. [PDF]

open access: yesAudiol Res
Zrno M   +4 more
europepmc   +1 more source

Cutting‐Edge Advancements in Physical Stimulation for Spiral Ganglion Neuron Protection and Regeneration

open access: yesAdvanced NanoBiomed Research, Volume 5, Issue 12, December 2025.
Physical stimulation strategies have emerged as a therapeutic avenue for the regeneration of spiral ganglion neurons. This review explores diverse physical stimulation modalities—including topographical modulation, electrical stimulation, and photostimulation—each operating through distinct mechanisms to regulate SGN biological behavior. By elucidating
Yuhan Bai   +7 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  

M/G‐Ratio‐Tuned Calcium Alginate Hydrogel Microcarrier for Controlled Delivery of Adeno‐Associated Virus for Gene Therapy

open access: yesBiotechnology and Bioengineering, Volume 122, Issue 12, Page 3433-3445, December 2025.
ABSTRACT This paper proposes the controlled release of adeno‐associated virus (AAV) by polymer mesh structures of alginate hydrogel microbeads (gel‐beads). The polymer mesh structure of alginate hydrogel can be controlled by adjusting the number of cross‐linking points depending on the molecular structure (M/G ratio) of the alginate hydrogel.
Aiki Hioki   +3 more
wiley   +1 more source

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