Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Retinal Diseases and USH2A[original query] |
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Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. European journal of human genetics : EJHG 2004 May 12 (5): 407-10. Aller Elena, Nájera Carmen, Millán José María, Oltra Juan S, Pérez-Garrigues Herminio, Vilela Concepción, Navea Amparo, Beneyto Magdale |
Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease. Investigative ophthalmology & visual science 2017 1 58 (1): 424-429. Huang Xiu-Feng, Mao Jian-Yang, Huang Zhi-Qin, Rao Feng-Qin, Cheng Fei-Fei, Li Fen-Fen, Wang Qing-Feng, Jin Zi-Bi |
Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next?generation sequencing. Molecular medicine reports 2020 Apr . Zhu Xiong, Li Xiao, Tian Wanli, Yang Yeming, Sun Kuanxiang, Li Shuzhen, Zhu Xianj |
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Frontiers in genetics 2022 7 13 914345. Maltese Paolo Enrico, Colombo Leonardo, Martella Salvatore, Rossetti Luca, El Shamieh Said, Sinibaldi Lorenzo, Passarelli Chiara, Coppè Andrea Maria, Buzzonetti Luca, Falsini Benedetto, Chiurazzi Pietro, Placidi Giorgio, Tanzi Benedetta, Bertelli Matteo, Iarossi Giancar |
Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients. Gene 2022 12 853 147087. Jin Bingyu, Li Jing, Yang Qiaodan, Tang Xinyu, Wang Chen, Zhao Yue, Zheng Fang, Zhang Yuanzhen, Ma Jianhong, Yan Mi |
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. Scientific reports 2022 12 12 (1): 20815. Karali Marianthi, Testa Francesco, Di Iorio Valentina, Torella Annalaura, Zeuli Roberta, Scarpato Margherita, Romano Francesca, Onore Maria Elena, Pizzo Mariateresa, Melillo Paolo, Brunetti-Pierri Raffaella, Passerini Ilaria, Pelo Elisabetta, Cremers Frans P M, Esposito Gabriella, Nigro Vincenzo, Simonelli Francesca, Banfi Sand |
Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 11 . Richul Oh, Se Joon Woo, Kwangsic J |
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- Page last updated:Apr 29, 2024
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