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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Counseling and RNR1[original query]
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing.
Indian journal of human genetics 2013 Jan 19 (1): 54-7.
Salomão Karina Bezerra, Ayo Christiane Maria, Della-Rosa Valter Augus
Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.
Medicine 2018 Sep 97 (38): e12285.
Zhao Pingsen, Lin Lifang, Lan Liubi
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
European journal of human genetics : EJHG 2021 Nov .
Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel
Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry.
The journal of international advanced otology 2021 Nov 17 (6): 492-499.
Wang Yi, Chen Wencheng, Liu Zhizhong, Xing Wen, Zhang Haiy
A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.
BMC medical genomics 2022 2 15 (1): 18.
Ghasemnejad Tohid, Shekari Khaniani Mahmoud, Nouri Nojadeh Jafar, Mansoori Derakhshan Si
Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province.
Frontiers in pediatrics 2022 11 10 1020519.
Luo Haiyan, Yang Yan, Wang Xinrong, Xu Fangping, Huang Cheng, Liu Danping, Zhang Liuyang, Huang Ting, Ma Pengpeng, Lu Qing, Huang Shuhui, Yang Bicheng, Zou Yongyi, Liu Yanq
[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
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