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

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-112076
https://doi.org/10.3390/audiolres14020023
https://oru.diva-portal.org/smash/get/diva2:1842113/FULLTEXT01.pdf

المؤلفون: Kumar, B.L.Yatish^{Aff1, IDs12070024049539_cor1}, Reddy, Manjoo S., Simha, N.Vijayendra, Avinash, K.

المصدر: Indian Journal of Otolaryngology and Head & Neck Surgery. :1-6

المؤلفون: Subirà, Olaia^{Aff1, IDs00417024065453_cor1}, Català-Mora, Jaume^{Aff2, Aff3, Aff4}, del Prado, Cristina^{Aff2, Aff4}, Díaz-Cascajosa, Jesús^{Aff2, Aff4}, Barraso Rodrigo, Marina^{Aff2, Aff4}, Cobos, Estefanía^{Aff3, Aff4}, Aguilera, Cinthia, Esteve-Garcia, Anna, García-Arumí, José^{Aff1, Aff6, Aff7}, Caminal, Josep M.^{Aff3, Aff4}

المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology: Incorporating German Journal of Ophthalmology. :1-10

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

URL الوصول: https://escholarship.org/uc/item/34n974nw

المؤلفون: Dourmishev L. A.

المصدر: Acta Medica Bulgarica, Vol 51, Iss 3, Pp 63-69 (2024)

مصطلحات موضوعية: connective tissue diseases, overlap syndromes, sharp’s syndrome, rhupus syndrome, rowell’s syndrome, scleromyositis, lupus erythematosus/lichen planus overlap syndrome, reynolds syndrome, senear–usher syndrome, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2719-5384

URL الوصول: https://doaj.org/article/88d7f73edfbd4f02af9b3506fbbebbb9

المؤلفون: Rita Serra, Vincenzo Rallo, Maristella Steri, Stefania Olla, Maria Grazia Piras, Michele Marongiu, Myriam Gorospe, David Schlessinger, Antonio Pinna, Edoardo Fiorillo, Francesco Cucca, Andrea Angius

المصدر: BMC Ophthalmology, Vol 24, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Usher syndrome, USH2A gene, Pathogenic variant, Sardinia Founder effect, Molecular screening, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/4b4dde0c7d4e4c11911ccdfe6bc78aa8

المؤلفون: Wang, Suyang^{Aff1, Aff2}, Xu, Chen Yang, Zhu, Yiming, Ding, Wenjuan, Hu, Jieyu, Xu, Baicheng, Guo, Yufen^{Aff1, IDs1302302403348x_cor7}, Liu, Xiaowen^{Aff1, Aff2, IDs1302302403348x_cor8}

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Serra, Rita^{Aff1, Aff2}, Rallo, Vincenzo, Steri, Maristella, Olla, Stefania, Piras, Maria Grazia, Marongiu, Michele, Gorospe, Myriam, Schlessinger, David, Pinna, Antonio, Fiorillo, Edoardo, Cucca, Francesco, Angius, Andrea^{Aff1, IDs12886024035784_cor12}

المصدر: BMC Ophthalmology. 24(1)

المؤلفون: Lin, Yu-Wei, Huang, Yu-Shu^{Aff2, Aff3}, Lin, Chien-Yu, Lin, Chao-Wen, Wu, Chen-Chi, Yang, Chang-Hao, Yang, Chung-May, Chen, Pei-Lung^{Aff2, Aff4, Aff5, IDs13023024032382_cor8}, Chen, Ta-Ching^{Aff3, Aff6, IDs13023024032382_cor9}

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Johansen, L., O’Hare, F.^{Aff2, Aff4}, Shepard, E. R., Ayton, L. N.^{Aff2, Aff3, Aff4}, Pelentsov, L. J., Kearns, L. S.^{Aff4, Aff7}, Galvin, K. L.^{Aff6, IDs1302302403125w_cor7}

المصدر: Orphanet Journal of Rare Diseases. 19(1)