Results 141 to 150 of about 4,472,659 (361)

COMPREHENSIVE AUDIOLOGICAL STUDIES SENSORY NEURAL HEARING LOSS OF NOISE GENESIS

open access: diamond, 2023
Shamatov I.Y.   +3 more
openalex   +2 more sources

How Can Hearing Loss Cause Dementia?

open access: yesNeuron, 2020
T. Griffiths   +7 more
semanticscholar   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani   +17 more
wiley   +1 more source

Gout with hearing loss [PDF]

open access: yesRheumatology and Immunology Research, 2021
Huang, Wenhan, Wang, Yi, Shen, Min
openaire   +2 more sources

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

The prevalence and patterns of hearing loss in Jordan: A cross-sectional study.

open access: yesPLoS ONE
BackgroundHearing loss is known to be a serious issue that impedes human communication. The World Health Organization (WHO) estimates that approximately 20 in 100,000 newborns demonstrate congenital hearing impairments, leading to severely impacted ...
Safa Alqudah   +6 more
doaj   +1 more source

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