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A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II
Published 2020-01-01“…It is responsible for 2–5% of congenital deafness. WS is classified into four types depending on the clinical phenotypes. …”
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122
An Age-Related Hearing Protection Locus on Chromosome 16 of BXD Strain Mice
Published 2020-01-01“…Five of 54 strains maintain the normal threshold (20 dB SPL) even at 2 years old—an age at which both parental strains are essentially deaf. Further analyses revealed an age-related hearing protection (ahp) locus on chromosome 16 (Chr 16) at 57~76 Mb with a maximum LOD of 5.7. …”
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Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome
Published 2021-01-01“…As the most common causative gene for BORSD, dominant mutations in EYA1 are responsible for approximately 40% of the cases. In a sporadic deaf patient diagnosed as BOS, we identified an apparent heterozygous genomic deletion spanning the first four coding exons and one 5′ noncoding exon of EYA1 by targeted next-generation sequencing of 406 known deafness genes. …”
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125
Development of the inner ear and regeneration of hair cells after hearing impairment
Published 2025-01-01“…An in-depth study of the causes of the occurrence and development of hearing impairment and the regeneration of hearing loss for effective prevention, discovery, and treatment of deafness has great significance. This review aimed to analyze the development of the inner ear and summarize the related factors leading to HCs injury and the research progress of regeneration after injury.…”
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Involvement of Cholesterol Metabolic Pathways in Recovery from Noise-Induced Hearing Loss
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127
De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome
Published 2019-01-01“…The syndrome of maternally inherited diabetes and deafness (MIDD) is typically caused by the m.3243A>G mutation and widely considered maternally inherited. …”
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128
Current AAV-mediated gene therapy in sensorineural hearing loss
Published 2025-01-01“…Regeneration or direct repair of damaged cells in the inner ear is an effective way to treat sensorineural deafness. It is currently possible to regenerate hair cells to treat sensorineural hearing loss by FX-322, a small molecule drug in clinical trials. …”
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Serum NFL and neuropsychological performance over ∼8 years in women with and without HIV: a longitudinal repeated measures studyResearch in context
Published 2025-02-01“…The MWCCS is funded primarily by the National Heart, Lung, and Blood Institute (NHLBI), with additional co-funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institute on Aging (NIA), National Institute of Dental and Craniofacial Research (NIDCR), National Institute of Allergy and Infectious Diseases (NIAID), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Mental Health (NIMH), National Institute on Drug Abuse (NIDA), National Institute of Nursing Research (NINR), National Cancer Institute (NCI), National Institute on Alcohol Abuse and Alcoholism (NIAAA), National Institute on Deafness and Other Communication Disorders (NIDCD), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute on Minority Health and Health Disparities (NIMHD), and in coordination and alignment with the research priorities of the National Institutes of Health, Office of AIDS Research (OAR). …”
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130
Indonesian Sign Language Image Detection Using Convolutional Neural Network (CNN) Method
Published 2023-05-01“…In Indonesia, there are two sign languages utilized by the deaf community, SIBI and BISINDO. Unfortunately, the majority of non-deaf individuals and deaf companions are not proficient in sign language. …”
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131
Altered Brain Functional Activity in Infants with Congenital Bilateral Severe Sensorineural Hearing Loss: A Resting-State Functional MRI Study under Sedation
Published 2017-01-01“…ALFF of left Brodmann area 45 (BA45) was negatively correlated with deaf duration in infants with CSSHL. ALFF of right BA39 was positively correlated with deaf duration in infants with CSSHL. …”
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Język migowy w świetle współczesnego paradygmatu głuchoty
Published 2019-03-01“…The main issue addressed in this paper is a practical application of sign language in early development support for deaf and hard of hearing children in Poland. This discussion is set in a broad cultural, linguistic, psychological and rehabilitation context. …”
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133
Una concepción del tiempo no-lineal en dos lenguas: el maya yucateco colonial y actual y la lengua de señas maya yucateca
Published 2017-12-01“…The second language considered is Yucatec Mayan Sign Language, an emerging language that recently appeared in Mayan villages where deaf persons were born. In order to communicate without using an oral language, deaf persons and their families have invented sign languages that have similar characteristics in different villages. …”
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La géographie et l’histoire : l’association de deux disciplines qui s’ignorent ?
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Sistem Rekognisi Citra Digital Bahasa Isyarat Menggunakan Convolutional Neural Network dan Spatial Transformer
Published 2024-12-01“…Abstract Sign language is very important for a group of people, namely the deaf or dumb. To be able to communicate with people who are mute or deaf, people who are not mute or deaf require sign language to be able to understand the intentions or thoughts of those who are mute or deaf. …”
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AfriSign: African sign languages machine translation
Published 2025-01-01“…These results give headway for more multilingual models to be developed to enhance inclusion for the deaf community and bridge the gap between the hearing and the deaf in Africa.…”
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139
Leiomyoma in Vulva: A Diagnostic Dilemma
Published 2014-01-01“…A 20-year old unmarried girl, deaf and mute since birth, was initially diagnosed to have Bartholin’s abscess. …”
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UAlpha40: A comprehensive dataset of Urdu alphabet for Pakistan sign languageMendeley Data
Published 2025-04-01“…In Pakistan, Urdu Sign Language (USL) is a visual gesture language used by the deaf community for communication. The Urdu alphabet in Pakistan Sign Language consists not only of static gestures but also includes dynamic gestures. …”
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