Results 131 to 140 of about 4,472,659 (361)

A Study on Functional Hearing Loss in Children

open access: diamond, 2016
Tsuyoshi Umehara   +10 more
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Simultaneous idiopathic bilateral sudden hearing loss - characteristics and response to treatment

open access: yesBrazilian Journal of Otorhinolaryngology
Introduction The aetiology of sudden hearing loss is poorly defined; however, infectious, vascular and neoplastic aetiologies are presumed to be responsible. In addition, the aetiology of bilateral sudden hearing loss is also unknown.
Ferit Akil   +5 more
doaj   +1 more source

Relationship Between Serum Levels of Brain-Derived Neurotrophic Factor (BDNF) and Hearing Loss and Tinnitus [PDF]

open access: green, 2023
Nastaran Ranjbar   +4 more
openalex   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

Noise-Induced Hearing Loss

open access: yesJKS (Jurnal Kedokteran Syiah Kuala), 2013
Abstrak. Gangguan pendengaran merupakan salah satu penyakit akibat kerja. Lingkungan kerja yang bising sebagai dampak dari sektor industri. Hal ini merupakan penyebab tersering terjadinya hearing loss.
Liza Salawati
doaj  

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss   +8 more
wiley   +1 more source

Hearing Loss, Hearing Aids, and Cognition

open access: yesJAMA Network Open
ImportanceMost observational studies examining the association between hearing loss (HL) and cognitive impairment used subjective measures of hearing and addressed only one dimension of cognition, and very few investigated the potential benefit of hearing aids (HAs).ObjectiveTo evaluate objectively measured HL and several dimensions of cognition and ...
Grenier, Baptiste   +6 more
openaire   +4 more sources

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