Results 161 to 170 of about 325,838 (344)
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah+6 more
wiley +1 more source
Mitochondrial transfer RNA mutation is one of the most important causes of hereditary hearing loss in humans. Mitochondrial transfer RNASer (UCN) gene is another hot spot for mutations associated with non-syndromic hearing loss, besides the 12S ribosomal
Dejun Zhang+8 more
doaj
Using of a bilingual method at the learning of the poem "The Dream" (by Taras Shevchenko) of ninth grade hearing impairment students [PDF]
Стаття розкриває особливості застосування інноваційної моделі викладання нечуючим учням в загальноосвітніх школах для дітей з порушеннями слуху літературного твору, зокрема, поеми Т.Г.Шевченка «Сон» із застосуванням двох мовних систем: словесної і ...
Адамюк, Н.Б.
core
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
The influence of consonant environment on duration of vowels in the speech of normal hearing, moderately hearing impaired, and deaf adults [PDF]
Robert L. Whitehead, K. O. Jones
openalex +1 more source
The effect of right versus left long-term single-sided deafness on sound source localization
Purpose: To analyze the effect of right versus left long-term single-sided deafness (SSD) on sound source localization (SSL), discuss the necessity of intervention and treatment for SSD patients, and analyze the therapeutic effect of long-term unilateral
Qingqing Xia+8 more
doaj
Clinical Study About the Using Methode of Hearing Aid in Young Hearing Impaired Children
Jiro Takagi
openalex +2 more sources
Intelligibility of low- and high-pass filtered speech set at 1900 Hz for hearing-impaired subjects [PDF]
Ellen Condon, Carl Asp
openalex +1 more source