PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Clinical and Experimental Otorhinolaryngology10.3342/ceo.2013.6.1.4120136141A Novel Frameshift Mutation of theUSH2AGene in a Korean Patient with Usher Syndrome Type IISung Hyun Boo, Min-Jung Song, Hee-Jin Kim, Yang-Sun Cho, Hosuk Chu, Moon-Hee Ko, Won-Ho Chung, Jong-Won Kim, Sung Hwa Honghttp://synapse.koreamed.org/pdf/10.3342/ceo.2013.6.1.41, http://synapse.koreamed.org/DOIx.php?id=10.3342/ceo.2013.6.1.41, http://www.e-ceo.org/upload/pdf/ceo-6-41.pdf
Human Mutation10.1002/humu.95242008293451-451Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type IIBo Dreyer, Vigdis Brox, Lisbeth Tranebjærg, Thomas Rosenberg, Andrè M. Sadeghi, Claes Möller, Øivind Nilssenhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.9524, http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.9524/fullpdf
10.21203/rs.3.rs-16667/v12020Targeted Exome Sequencing Identified a Novel USH2A Mutation in a Chinese Usher Syndrome FamilyDongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li, Xiaorong Lihttps://www.researchsquare.com/article/rs-16667/v1, https://www.researchsquare.com/article/rs-16667/v1.html
Gene10.1016/j.gene.2015.08.05320155722303-306Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndromeAneek Das Bhowmik, Ashwin Dalalhttps://api.elsevier.com/content/article/PII:S0378111915010239?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0378111915010239?httpAccept=text/plain
10.21203/rs.3.rs-16667/v52020Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case reportDongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li, Xiaorong Lihttps://www.researchsquare.com/article/rs-16667/v5, https://www.researchsquare.com/article/rs-16667/v5.html
10.21203/rs.3.rs-16667/v22020Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case reportDongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li, Xiaorong Lihttps://www.researchsquare.com/article/rs-16667/v2, https://www.researchsquare.com/article/rs-16667/v2.html
The American Journal of Human Genetics10.1086/3830962004744738-744Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type IIErwin van Wijk, Ronald J.E. Pennings, Heleen te Brinke, Annemarie Claassen, Helger G. Yntema, Lies H. Hoefsloot, Frans P.M. Cremers, Cor. W.R.J. Cremers, Hannie Kremerhttps://api.elsevier.com/content/article/PII:S0002929707618990?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0002929707618990?httpAccept=text/plain
10.21203/rs.3.rs-16667/v32020Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case reportDongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li, Xiaorong Lihttps://www.researchsquare.com/article/rs-16667/v3, https://www.researchsquare.com/article/rs-16667/v3.html
10.21203/rs.3.rs-16667/v42020Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case reportDongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li, Xiaorong Lihttps://www.researchsquare.com/article/rs-16667/v4, https://www.researchsquare.com/article/rs-16667/v4.html
10.21203/rs.3.rs-16667/v62020Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case reportDongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li, Xiaorong Lihttps://www.researchsquare.com/article/rs-16667/v6, https://www.researchsquare.com/article/rs-16667/v6.html