총 291건 중 291건 출력
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161
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Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation
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Tang, Xiaowen;
Yang, Li;
Zhu, Yi;
Liao, Zhisu;
Wang, Jindan;
Qian, Yaping;
Tao, Zhihua;
Hu, Lenong;
Wu, Guomin;
Lan, Jinshan;
Wang, Xinjian;
Ji, Jingzhang;
Wu, Jian;
Ji, Yu;
Feng, Jinbao;
Chen, Jianfu;
Li, Zhiyuan;
Zhang, Xue;
Lu, Jianxin;
Guan, Min-Xin;
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(Gene,
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162
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Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss
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Chai, Y.;
Sun, L.;
Pang, X.;
Wang, X.;
Chen, D.;
Chen, Y.;
Wu, H.;
Yang, T.;
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(International journal of pediatric otorhinolaryngology,
v.78,
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pp.614-617)
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163
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Mitochondrial tRNA <sup>Arg</sup> T10454C variant may not influence the clinical expression of deafness associated 12S rRNA A1555G mutation
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Luo, Zhiyi;
Department of the Emergency Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China;
(Mitochondrial DNA. Part A,
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164
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Analysis of a Large-Scale Screening of Mitochondrial DNA m.1555A>G Mutation in 2417 Deaf-Mute Students in Northwest of China
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Guo, Yu-Fen;
Liu, Xiao-Wen;
Xu, Bai-Cheng;
Zhu, Yi-Ming;
Wang, Yan-Li;
Zhao, Fei-Fan;
Wang, Da-Yong;
Zhao, Ya-Li;
Ji, Yu-Bin;
Wang, Qiu-Ju;
Ministry of Health of Gansu Province, Lanzhou, China.;
Department of Otolaryngology-Head and Neck Surgery, The Second Hospital of Lanzhou University, Lanzhou, China.;
Department of Otolaryngology-Head and Neck Surgery, The Second Hospital of Lanzhou University, Lanzhou, China.;
Department of Otolaryngology-Head and Neck Surgery, The Second Hospital of Lanzhou University, Lanzhou, China.;
Department of Otolaryngology-Head and Neck Surgery, The Second Hospital of Lanzhou University, Lanzhou, China.;
Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, China.;
Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, China.;
Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese Peop;
(Genetic testing and molecular biomarkers,
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<i>Blind-Stamped Panels in the English Book-Trade, c. 1485-1555, Supplement to the Bibliographical Society's Transactions, No. 17</i>. G. D. Hobson
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Adams, Charles Marshall;
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Global prevalence of the mitochondrial MT-RNR1 A1555G variant in non-syndromic hearing loss: A systematic review and meta-analysis
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Han, Baoai;
Wang, Wenqing;
Wu, Han;
Hu, Juanjuan;
Sun, Liu;
Zhu, Yun;
Cheng, Alan G.;
Sun, Haiying;
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(Neuroscience,
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pp.16-26)
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167
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Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
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del Castillo, F J;
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(Journal of medical genetics,
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pp.632-636)
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168
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Absence of hypersensitivity to the ototoxic effect of gentamicin in a patient carrying the 1555A > G mutation in the MT-RNR1 gene
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Salomó
n Felechosa, Cristina;
Gallo Terá
n, Jaime;
Morales-Angulo, Carmelo;
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(Acta otorrinolaringologica,
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2023,
pp.403-405)
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169
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Heterozygous <i>SSBP1</i> start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
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Kullar, Peter J;
Gomez-Duran, Aurora;
Gammage, Payam A;
Garone, Caterina;
Minczuk, Michal;
Golder, Zoe;
Wilson, Janet;
Montoya, Julio;
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MRC-Mitochondrial Biology Unit, University of Cambridge, CB2 0XY, UK;
MRC-Mitochondrial Biology Unit, University of Cambridge, CB2 0XY, UK;
MRC-Mitochondrial Biology Unit, University of Cambridge, CB2 0XY, UK;
MRC-Mitochondrial Biology Unit, University of Cambridge, CB2 0XY, UK;
MRC-Mitochondrial Biology Unit, University of Cambridge, CB2 0XY, UK;
MRC-Mitochondrial Biology Unit, University of Cambridge, CB2 0XY, UK;
Institute of Health and Society, Newcastle University, Baddiley-Clark Building, Richardson Road, Newcastle upon Tyne, NE2 4AX, UK;
Universidad de Zaragoza-CIBER de Enfermedades Raras (CIBERER)-Instituto de Investigació
n Sanitaria de Aragó
n, Spain;
Research Unit of Clinical Neuroscience, University of Oulu, Oulu, Finland and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland;
Research Unit of Clinical Neuroscience, University of Oulu, Oulu, Finland and Medical Research Center Oulu, Oulu University Hospital and;
(Brain : a journal of neurology,
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