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المؤلفون: Busi, Micol, 1975, Castiglione, Alessandro, 1976
المصدر: Audiology Research. 14(2):254-263
مصطلحات موضوعية: Usher syndrome, sensorineural hearing loss, retinitis pigmentosa, cochlear implantation, genetic mutations, therapeutic approaches, gene therapy, Oto-rhino-laryngologi, Oto-Rhino-Laryngology, Hälso- och sjukvårdsforskning, Health and Medical Care Research
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-112076Test
https://doi.org/10.3390/audiolres14020023Test
https://oru.diva-portal.org/smash/get/diva2:1842113/FULLTEXT01.pdfTest -
2دورية أكاديمية
المؤلفون: Gilmore, W, Hultgren, Nan, Chadha, Abhishek, Barocio, Sonia, Zhang, Joyce, Kutsyr, Oksana, Flores-Bellver, Miguel, Canto-Soler, M, Williams, David
مصطلحات موضوعية: Gene therapy, Isoforms, MYO7A, Retina, Usher syndrome, Humans, Mice, Animals, Swine, Usher Syndromes, Myosin VIIa, Retina, Protein Isoforms, Mutation, Genetic Therapy
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/34n974nwTest
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3دورية أكاديمية
المؤلفون: Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Chen
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
مصطلحات موضوعية: USH2A, Usher syndrome, Retinitis pigmentosa, Exon 13, Gene therapy, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: L. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns, K. L. Galvin
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
مصطلحات موضوعية: Usher syndrome, Parents, Support needs, Interview study, Rare disease, Disease burden, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Micol Busi, Alessandro Castiglione
المصدر: Audiology Research, Vol 14, Iss 2, Pp 254-263 (2024)
مصطلحات موضوعية: Usher syndrome, sensorineural hearing loss, retinitis pigmentosa, cochlear implantation, genetic mutations, therapeutic approaches, Otorhinolaryngology, RF1-547
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Melanie Kempf, Susanne Kohl, Krunoslav Stingl, Fadi Nasser, Katarina Stingl, Friederike C. Kortuem
المصدر: Frontiers in Ophthalmology, Vol 4 (2024)
مصطلحات موضوعية: adaptive optics imaging, usher syndrome, degenerative retinal disease, multimodal degenerative retinal disease, multimodal imaging, cone mosaic, Medicine
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fopht.2024.1349234/fullTest; https://doaj.org/toc/2674-0826Test
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7دورية أكاديمية
المؤلفون: Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto, Beatrice Spedicati
المصدر: Audiology Research, Vol 13, Iss 6, Pp 989-995 (2023)
مصطلحات موضوعية: Usher syndrome type I, CDH23, psychiatric symptoms, Otorhinolaryngology, RF1-547
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Sloane Clay, Adele Evans, Regina Zambrano, David Otohinoyi, Chindo Hicks, Fern Tsien
المصدر: Frontiers in Pediatrics, Vol 12 (2024)
مصطلحات موضوعية: variants of uncertain significance, pediatric hearing loss, Usher Syndrome, ADGRV1, VLGR1, bioinformatics, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2024.1299341/fullTest; https://doaj.org/toc/2296-2360Test
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9دورية أكاديمية
المؤلفون: Hufnagel, Robert B, Liang, Wendi, Duncan, Jacque L, Brewer, Carmen C, Audo, Isabelle, Ayala, Allison R, Branham, Kari, Cheetham, Janet K, Daiger, Stephen P, Durham, Todd A, Guan, Bin, Heon, Elise, Hoyng, Carel B, Iannaccone, Alessandro, Kay, Christine N, Michaelides, Michel, Pennesi, Mark E, Singh, Mandeep S, Ullah, Ehsan, Group, for the Foundation Fighting Blindness Consortium Investigator
المصدر: Human Mutation. 43(5)
مصطلحات موضوعية: Genetics, Clinical Research, Neurosciences, Eye Disease and Disorders of Vision, Rare Diseases, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Eye, Extracellular Matrix Proteins, Genetic Association Studies, Humans, Mutation, Retinitis Pigmentosa, Usher Syndromes, genotype, hearing loss, photoreceptor degeneration, retinitis pigmentosa, USH2A, Usher syndrome, Foundation Fighting Blindness Consortium Investigator Group, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/260273dhTest
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10دورية أكاديمية
المؤلفون: Samantha C. Lau, Mhamed Grati, Kevin Isgrig, Moaz Sinan, Kaitlyn R. Calabro, Jianliang Zhu, Yasuko Ishibashi, Zeynep Ozgur, Talah Wafa, Inna A. Belyantseva, Tracy Fitzgerald, Thomas B. Friedman, Sanford L. Boye, Shannon E. Boye, Wade W. Chien
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 534-545 (2023)
مصطلحات موضوعية: gene therapy, hearing loss, Usher syndrome, USH1B, MYO7A, AAV, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050123001262Test; https://doaj.org/toc/2329-0501Test