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Human Genetics|July 30, 2010
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearingSilvia Naranjo, Krysta Voesenek, Elisa de la Calle-Mustienes, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|June 27, 2025
Ophthalmological manifestations, visual outcomes, and treatment of electrical and lightning trauma: A Systematic ReviewMaría A Piedrahita, Andrés Felipe Pineda-Vanegas, Felipe Moreno-Mendoza, et al.
Human Mutation|November 25, 2003
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)Montserrat Rodríguez-Ballesteros, Francisco J del Castillo, Yolanda Martín, et al.
American Journal of Human Genetics|May 10, 2011
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing lossAntje K Huebner, Marta Gandia, Peter Frommolt, et al.
Healthcare (Basel, Switzerland)|November 14, 2023
Physicians' Perspectives on HL7 Information Policy Sensitive Value Set: A Validation Study through Health Concept CategorizationMaheswari Eluru, Daniel Hector Mendoza, Audrey Wong, et al.
American Journal of Human Genetics|November 6, 2012
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairmentMargit Schraders, Laura Ruiz-Palmero, Ersan Kalay, et al.
Human Mutation|April 3, 2008
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathyMontserrat Rodríguez-Ballesteros, Raúl Reynoso, Margarita Olarte, et al.
American Journal of Human Genetics|October 23, 2003
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyIgnacio Del Castillo, Miguel A Moreno-Pelayo, Francisco J Del Castillo, et al.
Human Mutation|April 27, 2011
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing lossMichael S Hildebrand, Matías Morín, Nicole C Meyer, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneNele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, et al.
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