Showing 61 - 80 results of 291 for search '"Deafness"', query time: 0.05s Refine Results
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    Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? by Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca

    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 by Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

    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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    Komunikasi Nonverbal Guru pada Murid Tunarungu dalam Meningkatkan Kemampuan Berinteraksi Sosial by Inda Wardah Hasibuan, Syafruddin Ritonga, Novri Novri

    Published 2020-01-01
    Subjects: “…nonverbal communication, deaf people, extraordinary primary school.…”
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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 by Hiraku Kumamaru, Loren G Miller, Rie Sakai-Bizmark, Dennys Estevez, Emily H Marr, Jong Hyon Lee, Frank Wu

    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) by Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

    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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    The legal recognition of sign languages : advocacy and outcomes around the world /

    Published 2019
    Subjects: “…Deaf Legal status, laws, etc. 14227…”
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