Search Results - "Weaver, Amy E"

Copy number variants are a common cause of non-syndromic hearing loss by Shearer, A Eliot, Kolbe, Diana L, Azaiez, Hela, Sloan, Christina M, Frees, Kathy L, Weaver, Amy E, Clark, Erika T, Nishimura, Carla J, Black-Ziegelbein, E Ann, Smith, Richard J H

“…Copy number variants (CNVs) are a well-recognized cause of genetic disease; however, methods for their identification are often gene-specific, excluded as…”
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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss by Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ranum, Paul T., Weaver, Amy E., Black-Ziegelbein, E. Ann, Wang, Donghong, Azaiez, Hela, Smith, Richard J. H.

“…Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has…”
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Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome by Maga, Tara K, Nishimura, Carla J, Weaver, Amy E, Frees, Kathy L, Smith, Richard J.H

“…Atypical hemolytic uremic syndrome (aHUS) is characterized by acute renal failure, thrombocytopenia and microangiopathic hemolytic anemia, and occurs with an…”
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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome by Tollefson, Mallory R., Gogal, Rose A., Weaver, A. Monique, Schaefer, Amanda M., Marini, Robert J., Azaiez, Hela, Kolbe, Diana L., Wang, Donghong, Weaver, Amy E., Casavant, Thomas L., Braun, Terry A., Smith, Richard J. H., Schnieders, Michael J.

“…Hearing loss is the leading sensory deficit, affecting ~ 5% of the population. It exhibits remarkable heterogeneity across 223 genes with 6328 pathogenic…”
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Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss by Stiff, Heather A, Sloan-Heggen, Christina M, Ko, Ashley, Pfeifer, Wanda L, Kolbe, Diana L, Nishimura, Carla J, Frees, Kathy L, Booth, Kevin T, Wang, Donghong, Weaver, Amy E, Azaiez, Hela, Kamholz, John, Smith, Richard J H, Drack, Arlene V

“…: Usher syndrome is the most common hereditary syndrome combining deafness and blindness. In the 2017 National Child Count of Children and Youth who are…”
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Factors Influencing Openness to Future Smoking Among Nonsmoking Adolescents by Seo, Dong-Chul, Torabi, Mohammad R., Weaver, Amy E.

“…ABSTRACT Background:  To investigate the correlates of youth tobacco use in terms of nonsmoking adolescents’ openness to future smoking, a secondary analysis…”
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The Art of Nursing in Clinical Practice: A Measurement Study by Weaver, Amy E

“…While contemporary practice emphasizes the science of nursing, limited research has been conducted on the art of nursing. Furthermore, there is currently no…”
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A Guide to Safe Sysop‐ing: The Church of Scientology, Sysops & On‐Line Service Providers by Weaver, Amy E.

“…In the past two years, computer bulletin board (BBS) system operators ("sysops") have been repeatedly held liable for the civil and criminal violations of…”
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Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss by Stiff, Heather A., Sloan-Heggen, Christina M., Ko, Ashley, Pfeifer, Wanda L., Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Booth, Kevin T., Wang, Donghong, Weaver, Amy E., Azaiez, Hela, Kamholz, John, Smith, Richard J. H., Drack, Arlene V.

“…Background: Usher syndrome is the most common hereditary syndrome combining deafness and blindness. In the 2017 National Child Count of Children and Youth who…”
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The Ronald Reagan Pub Comes to America by Weaver, Amy E

“…Visitors to the Ronald Reagan Presidential Library and Museum in Simi Valley, California, are treated to many tableaux from the President's long, varied life:…”
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