Results 81 to 90 of about 1,060,874 (314)

Delayed Diagnosis of Congenital Hearing Loss in Preschool Children [PDF]

open access: green, 1965
Geoffrey C. Robinson   +2 more
openalex   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa   +4 more
wiley   +1 more source

In Our Own Voice: The Use of Focus Groups to Describe Mental Health Care Experiences of Persons with Hearing Loss in Allegheny County [PDF]

open access: yes, 2007
Disparities in access to mental health care for persons with hearing loss are significant public health problems. Despite federal mandates such as the Americans with Disabilities Act, the Deaf, Deafblind and hard-of hearing populations remain greatly ...
Lokar, Francis R. R.
core   +1 more source

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

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Presbyacusis A Review [PDF]

open access: yes
Life expectancy of Humans is on the rise. World’s human population is aging rapidly. According to a report of US census Bureau nearly 24% of current world population is above the age of 50. This is a phenomenal number.
Balasubramanian, Thiagarajan
core  

Hubungan Perilaku Penggunaan Alat Dengar Telinga Dengan Gangguan Pendengaran Pada Mahasiswa Program Studi Pendidikan Dokter [PDF]

open access: yes, 2015
Music players connected via ear hearing devices popular among teens to listen to music. These habits can lead to hearing loss. Past research has shown an association between duration of use, intensity, volume, frequency, and type of hearing aid with ...
Rahayu, I. N. (Ika)
core  

Hearing loss help [PDF]

open access: yesBritish Dental Journal, 2020
Laura Gartshore, N Mistry
openaire   +2 more sources

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

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