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Dietrich Stephan

Affiliations: 
Arizona State University, Tempe, AZ, United States 
Area:
Genetics, Molecular Biology, Neuroscience Biology, Pathology
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"Dietrich Stephan"
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Seth E. Dobrin grad student 2004 Arizona State

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Hildebrand MS, Kahrizi K, Bromhead CJ, et al. (2010) Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. The Annals of Otology, Rhinology, and Laryngology. 119: 830-5
Hildebrand MS, Gandolfo L, Shearer AE, et al. (2010) A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss. The Laryngoscope. 120: 2489-93
Hildebrand MS, Thorne NP, Bromhead CJ, et al. (2010) Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clinical Genetics. 77: 563-71
Webster JA, Gibbs JR, Clarke J, et al. (2009) Genetic control of human brain transcript expression in Alzheimer disease. American Journal of Human Genetics. 84: 445-58
Shearer AE, Hildebrand MS, Webster JA, et al. (2009) Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. The Laryngoscope. 119: 727-33
Shearer AE, Hildebrand MS, Bromhead CJ, et al. (2009) A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. American Journal of Medical Genetics. Part A. 149: 555-8
Stamm DS, Siegel DG, Mehltretter L, et al. (2008) Refinement of 2q and 7p loci in a large multiplex NTD family. Birth Defects Research. Part a, Clinical and Molecular Teratology. 82: 441-52
Wider C, Melquist S, Hauf M, et al. (2008) Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology. 70: 1377-83
Myers AJ, Gibbs JR, Webster JA, et al. (2007) A survey of genetic human cortical gene expression. Nature Genetics. 39: 1494-9
Boyles AL, Enterline DS, Hammock PH, et al. (2006) Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. American Journal of Medical Genetics. Part A. 140: 2776-85
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