Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Disease and RNR1[original query] |
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A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population. PloS one 2013 8 (3): e57237. Sagong Borum, Baek Jeong-In, Oh Se-Kyung, Na Kyung Jin, Bae Jae Woong, Choi Soo Young, Jeong Ji Yun, Choi Jae Young, Lee Sang-Heun, Lee Kyu-Yup, Kim Un-Kyu |
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clinical genetics 2015 Jun 87 (6): 588-93. Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li |
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. Chinese medical journal 2014 127 (18): 3233-7. Li Qian, Ji Yubin, Han Bing, Zong Liang, Lan Lan, Zhao Yali, Wang Hongyang, Wang Dayong, Wang Qiu |
Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation sequencing. Investigative ophthalmology & visual science 2014 Feb 55 (2): 986-92. Jeoung Jin Wook, Seong Moon-Woo, Park Sung Sup, Kim Dong Myung, Kim Seok Hwan, Park Ki |
Analysis of functional variants in mitochondrial DNA of Finnish athletes. BMC genomics 2019 10 20 (1): 784. Kiiskilä Jukka, Moilanen Jukka S, Kytövuori Laura, Niemi Anna-Kaisa, Majamaa Ka |
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application. Mitochondrion 2024 9 79 101954. Xianbang Sun, Katia Bulekova, Jian Yang, Meng Lai, Achilleas N Pitsillides, Xue Liu, Yuankai Zhang, Xiuqing Guo, Qian Yong, Laura M Raffield, Jerome I Rotter, Stephen S Rich, Goncalo Abecasis, April P Carson, Ramachandran S Vasan, Joshua C Bis, Bruce M Psaty, Eric Boerwinkle, Annette L Fitzpatrick, Claudia L Satizabal, Dan E Arking, Jun Ding, Daniel Levy, , Chunyu L |
Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv : the preprint server for health sciences 2024 1 . Xianbang Sun, Katia Bulekova, Jian Yang, Meng Lai, Achilleas N Pitsillides, Xue Liu, Yuankai Zhang, Xiuqing Guo, Qian Yong, Laura M Raffield, Jerome I Rotter, Stephen S Rich, Goncalo Abecasis, April P Carson, Ramachandran S Vasan, Joshua C Bis, Bruce M Psaty, Eric Boerwinkle, Annette L Fitzpatrick, Claudia L Satizabal, Dan E Arking, Jun Ding, Daniel Levy, , Chunyu L |
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