Results 171 to 180 of about 2,269,019 (331)

Hearing health outreach services to Indigenous children and young people in the Northern Territory 2012–13 and 2013–14 [PDF]

open access: yes
Presents analyses on hearing health outreach services provided to Indigenous children and young people in the Northern Territory. Summary This report presents information on ear and hearing outreach services funded by the Department of Health and ...
Australian Institute of Health and Welfare
core  

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

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

Using Hearing Aids for Music: A UK Survey of Challenges and Strategies. [PDF]

open access: yesTrends Hear
Greasley AE   +6 more
europepmc   +1 more source

Head Injuries and the Hearing Screening Inventory

open access: yes, 2019
Head trauma can lead to problems with the ear and auditory pathway. These problems can involve tympanic membrane perforation, fragments in squamous epithelium, damage to the ossicles, or ischemia of the cochlear nerve.
Anderson, Abigail, Koch, Christopher
core  

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

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