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Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination
Published 2025-01-01“…Deafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia. …”
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Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children
Published 2021-01-01“…By analyzing the patients who received 127 gene panel testing, we found that 51 deaf children carried variants which were not included in 159 variant testing. …”
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La médiation culturelle pour les sourds dans le milieu muséal au Québec
Published 2017-10-01Subjects: Get full text
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Penggunaan bahasa isyarat dalam pembelajaran seni tari bagi siswa tunarungu tingkat sekolah menengah pertama di sekolah luar biasa
Published 2024-10-01Subjects: “…dance learning, deaf students, sign language…”
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GJB6-D13S1830 and GJB6-D13S1854 Deletions in Patients with non-Syndromic Prelingual Deafness
Published 2024-08-01“…<strong>Foundation:</strong> GJB6-D13S1830 and GJB6-D13S1854 deletions are pathogenic variants of the GJB6 gene, which has been shown to be the second cause of autosomal recessive non-syndromic deafness in Spain, where some of our ancestors come from. …”
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Cochlear Implantation in Single-Sided Deafness and Asymmetric Hearing Loss: 12 Months Follow-up Results of a European Multicenter Evaluation
Published 2024-07-01“…Background: People with single-sided deafness (SSD) or asymmetric hearing loss (AHL) have particular difficulty understanding speech in noisy listening situations and in sound localization. …”
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Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
Published 2011-01-01“…Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G→A mutation involving the connexin 26 gene. …”
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A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families
Published 2018-01-01“…Our study showed that targeted NGS is an effective tool for diagnosis of genetic deafness and that p.G141R in ILDR1 may be a relatively frequent mutation for DFNB42 in Chinese Hans.…”
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Image Recognition and Content Comprehension in Media Accessibility: A Study on the Reception of Audiences with Limited Hearing
Published 2024-09-01Subjects: Get full text
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Bilateral Sensorineural Deafness in a Young Pregnant Female Presenting with a Fever: A Rare Complication of a Reemerging Disease—Spotted Fever Group Rickettsioses
Published 2019-01-01“…Complications such as reversible bilateral deafness due to spotted fever rickettsioses are infrequently reported in the literature. …”
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The dynamic Colombian sign language dataset for basic conversation LSC70Mendeley Data
Published 2025-02-01Subjects: Get full text
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The legal recognition of sign languages : advocacy and outcomes around the world /
Published 2019Subjects: “…Deaf Legal status, laws, etc. 14227…”
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Teachers’ perceptions of rejection sensitivity in inclusive primary schools: qualitative case study
Published 2025-01-01Subjects: Get full text
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Evaluation of disparities in hospitalisation outcomes for deaf and hard of hearing patients with COVID-19: a multistate analysis of statewide inpatient databases from Florida, Maryland, New York and Washington
Published 2025-01-01“…Objective Investigate whether deaf or hard of hearing (D/HH) patients with COVID-19 exhibited different hospitalisation outcomes compared with hearing patients with COVID-19.Design Cohort studySetting Statewide Inpatient Databases for Florida, Maryland, New York and Washington, for the year 2020.Participants Records of patients aged 18–64 years with COVID-19Primary outcomes and measures Differences in in-hospital death, 90-day readmission, length of stay, hospitalisation cost, hospitalisation cost per day, intensive care unit (ICU) or coronary care unit (CCU) utilisation and ventilation use were evaluated. …”
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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Published 2019-01-01“…The accuracy of in silico pathogenicity prediction tools has not been previously assessed for variants associated with autosomal recessive deafness 1A (DFNB1A). Here, we identify in silico tools with the most accurate clinical significance predictions for missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes associated with DFNB1A. …”
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A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family
Published 2024-11-01Subjects: Get full text
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The influence of segmental errors and stress-placement errors on Polish listeners’ perceived degree of foreignaccentedness in non-native speech
Published 2021-12-01Subjects: Get full text
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Study on perspective taking in online discussions among university students with hearing impairments
Published 2024-11-01Subjects: Get full text
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A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report
Published 2025-01-01Subjects: Get full text
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