Results 161 to 170 of about 325,838 (344)

HEARING IMPAIRMENT DUE TO HEAD BLOW

open access: bronze, 1965
Ichiro Kirikae   +5 more
openalex   +2 more sources

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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 tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families

open access: yesHeliyon
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]

open access: yes, 2008
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  

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican 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

The effect of right versus left long-term single-sided deafness on sound source localization

open access: yesJournal of Otology
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  

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