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Items: 4

Select item 18670961.

A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss

Silvia Modamio-Høybjør, Ángeles Mencía, Richard Goodyear, Ignacio del Castillo, Guy Richardson, Felipe Moreno, Miguel Ángel Moreno-Pelayo

Am J Hum Genet. 2007 Jun; 80(6): 1076–1089. Published online 2007 Apr 24. doi: 10.1086/518311

PMCID:: PMC1867096

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Select item 97018742.

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss

Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu

J Clin Lab Anal. 2022 Nov; 36(11): e24708. Published online 2022 Sep 26. doi: 10.1002/jcla.24708

PMCID:: PMC9701874

Article PDF–2.0M

Select item 45673923.

Targeted Gene Capture and Massively Parallel Sequencing Identify TMC1 as the Causative Gene in a Six-generation Chinese Family with Autosomal Dominant Hearing Loss

Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu-Bin Ji, Ming-Yu Han, Fei Yu, Dong-Yang Kang, Xi Lin, Pu Dai

Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Am J Med Genet A. 2015 Oct; 167(10): 2357–2365. Published online 2015 Jun 16. doi: 10.1002/ajmg.a.37206

PMCID:: PMC4567392

Article PDF–786K

Select item 37532274.

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

Kyle R. Taylor, Adam P. DeLuca, A. Eliot Shearer, Michael S. Hildebrand, E. Ann Black-Ziegelbein, V. Nikhil Anand, Christina M. Sloan, Robert W. Eppsteiner, Todd E. Scheetz, Patrick L. M. Huygen, Richard J. H. Smith, Terry A. Braun, Thomas L. Casavant

Hum Mutat. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Hum Mutat. 2013 Apr; 34(4): 10.1002/humu.22268. Published online 2013 Feb 19. doi: 10.1002/humu.22268