Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Deafness and LOXHD1[original query] |
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Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. PloS one 2015 10 (11): e0142154. Atik Tahir, Onay Huseyin, Aykut Ayca, Bademci Guney, Kirazli Tayfun, Tekin Mustafa, Ozkinay Fer |
Carrier re-sequencing reveals rare but benign variants in recessive deafness genes. Scientific reports 2017 9 7 (1): 11355. He Longxia, Pang Xiuhong, Chen Penghui, Wang Xiaowen, Yang Tao, Wu H |
STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2017 10 38 (10): e393-e400. Plevova Pavlina, Paprskarova Martina, Tvrda Petra, Turska Petra, Slavkovsky Rastislav, Mrazkova E |
Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss. Neural plasticity 2018 8 2018 4920980. Hu Songqun, Sun Feifei, Zhang Jie, Tang Yan, Qiu Jinhong, Wang Zhixia, Zhang Lupi |
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. International journal of pediatric otorhinolaryngology 2020 May 136 110143. Liu Xiao-Wen, Wang Jian-Chao, Wang Su-Yang, Li Shu-Juan, Zhu Yi-Ming, Ding Wen-Juan, Xu Chen-Yang, Duan Lei, Xu Bai-Cheng, Guo Yu-F |
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.
![]() Communications biology 2021 6 4 (1): 706. Ivarsdottir Erna V, Holm Hilma, Benonisdottir Stefania, Olafsdottir Thorhildur, Sveinbjornsson Gardar, Thorleifsson Gudmar, Eggertsson Hannes P, Halldorsson Gisli H, Hjorleifsson Kristjan E, Melsted Pall, Gylfason Arnaldur, Arnadottir Gudny A, Oddsson Asmundur, Jensson Brynjar O, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Juliusdottir Thorhildur, Stefansdottir Lilja, Tragante Vinicius, Halldorsson Bjarni V, Petersen Hannes, Thorgeirsson Gudmundur, Thorsteinsdottir Unnur, Sulem Patrick, Hinriksdottir Ingibjorg, Jonsdottir Ingileif, Gudbjartsson Daniel F, Stefansson Ka |
Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants. International journal of pediatric otorhinolaryngology 2021 4 145 110715. Yu Sha, Chen Wen-Xia, Zhang Yun-Fei, Chen Chao, Ni Yihua, Duan Bo, Wang Huijun, Xu Zheng-M |
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s. Journal of medical genetics 2021 3 59 (5): 470-480. Kim Bong Jik, Jeon Hyoung Won, Jeon Woosung, Han Jin Hee, Oh Jayoung, Yi Nayoung, Kim Min Young, Kim Minah, Kim Justin Namju, Kim Bo Hye, Hyon Joon Young, Kim Dongsup, Koo Ja-Won, Oh Doo-Yi, Choi Byung Yo |
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