Results 61 to 70 of about 1,060,874 (314)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source
“Can you hear me now?”: Insurance Coverage for Hearing Benefits in the United States [PDF]
, 2015 Public and private insurance coverage for hearing benefits underscores the gaps in coverage for treating hearing loss in the U.S. The commodification of the hearing benefits sector of healthcare in this country has detrimental consequences for personal ...
Whipple, Reegan
core +1 more source
Management options in the sudden hearing loss of a diabetic patient [PDF]
, 2019 The aim of our paper is to highlight the main therapeutic principles and the management options in the case of a diabetic patient who has had a sudden hearing loss.
Badiu, Dumitru Cristinel +11 more
core +3 more sources
The effect of symmetrical and asymmetrical hearing impairment on the music quality perception [PDF]
, 2015 The purpose of this study was to investigate the effect of symmetrical, asymmetrical and unilateral hearing impairment on music quality perception. Six validated music pieces in the categories of classical music, folk music and pop music were used to ...
Cai, Yuexin Y +8 more
core +1 more source
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales +6 more
wiley +1 more source
THE CURE OF CHRONIC SUPPURATION OF THE MIDDLE EAR WITHOUT REMOVAL OF THE DRUM OR OSSICLES OR THE LOSS OF HEARING, [PDF]
, 1906 CharlesJ. Heath
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley +1 more source
A Study of Industrial Noise and Hearing Loss in a Controlled Population: A Preliminary Report [PDF]
, 1954 Charles D. Yaffe
openalex +1 more source