Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing
Ranum, Paul T., Goodwin, Alexander T., Yoshimura, Hidekane, Kolbe, Diana L., Walls, William D., Koh, Jin-Young, He, David Z.Z., Smith, Richard J.H.
Published in Cell reports (Cambridge) (12.03.2019)
Published in Cell reports (Cambridge) (12.03.2019)
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Journal Article
High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies
Bu, Fengxiao, Borsa, Nicolo Ghiringhelli, Jones, Michael B, Takanami, Erika, Nishimura, Carla, Hauer, Jill J, Azaiez, Hela, Black-Ziegelbein, Elizabeth A, Meyer, Nicole C, Kolbe, Diana L, Li, Yingyue, Frees, Kathy, Schnieders, Michael J, Thomas, Christie, Nester, Carla, Smith, Richard J H
Published in Journal of the American Society of Nephrology (01.04.2016)
Published in Journal of the American Society of Nephrology (01.04.2016)
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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
Walls, W. Daniel, Moteki, Hideaki, Thomas, Taylor R., Nishio, Shin-ya, Yoshimura, Hidekane, Iwasa, Yoichiro, Frees, Kathy L., Nishimura, Carla J., Azaiez, Hela, Booth, Kevin T., Marini, Robert J., Kolbe, Diana L., Weaver, A. Monique, Schaefer, Amanda M., Wang, Kai, Braun, Terry A., Usami, Shin-ichi, Barr-Gillespie, Peter G., Richardson, Guy P., Smith, Richard J., Casavant, Thomas L.
Published in Human genetics (01.10.2020)
Published in Human genetics (01.10.2020)
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Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization
Moteki, Hideaki, Azaiez, Hela, Sloan-Heggen, Christina M, Booth, Kevin, Nishio, Shin-Ya, Wakui, Keiko, Yamaguchi, Tomomi, Kolbe, Diana L, Iwasa, Yoh-Ichiro, Shearer, A Eliot, Fukushima, Yoshimitsu, Smith, Richard J H, Usami, Shin-Ichi
Published in Annals of otology, rhinology & laryngology (01.11.2016)
Published in Annals of otology, rhinology & laryngology (01.11.2016)
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The association between daily steps and health, and the mediating role of body composition: a pedometer-based, cross-sectional study in an employed South African population
Pillay, Julian D, van der Ploeg, Hidde P, Kolbe-Alexander, Tracy L, Proper, Karin I, van Stralen, Maartje, Tomaz, Simone A, van Mechelen, Willem, Lambert, Estelle V
Published in BMC public health (22.02.2015)
Published in BMC public health (22.02.2015)
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De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss
Moteki, Hideaki, Shearer, A Eliot, Izumi, Shuji, Kubota, Yamato, Azaiez, Hela, Booth, Kevin T, Sloan, Christina M, Kolbe, Diana L, Smith, Richard J H, Usami, Shin-Ichi
Published in Annals of otology, rhinology & laryngology (01.05.2015)
Published in Annals of otology, rhinology & laryngology (01.05.2015)
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Journal Article
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
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.
Published in Human genetics (01.04.2016)
Published in Human genetics (01.04.2016)
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Journal Article
Skin tolerance, efficacy, and quality of life of patients with red facial skin using a skin care regimen containing Licochalcone A
Weber, T M, Ceilley, R I, Buerger, A, Kolbe, L, Trookman, N S, Rizer, R L, Schoelermann, A
Published in Journal of cosmetic dermatology (01.09.2006)
Published in Journal of cosmetic dermatology (01.09.2006)
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Journal Article
Substance use and HIV-related sexual behaviors among US high school students: are they related?
Lowry, R, Holtzman, D, Truman, B I, Kann, L, Collins, J L, Kolbe, L J
Published in American journal of public health (1971) (01.07.1994)
Published in American journal of public health (1971) (01.07.1994)
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Journal Article
DNM1 encephalopathy: A new disease of vesicle fission
von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio D J, Sisodiya, Sanjay M, Helbig, Ingo
Published in Neurology (25.07.2017)
Published in Neurology (25.07.2017)
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Journal Article
School-Based Programs to Reduce Sexual Risk Behaviors: A Review of Effectiveness
Kirby, Douglas, Lynn Short, Collins, Janet, Deborah Rugg, Kolbe, Lloyd, Howard, Marion, Brent Miller, Sonenstein, Freya, Zabin, Laurie S.
Published in Public health reports (1974) (01.05.1994)
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Published in Public health reports (1974) (01.05.1994)
Journal Article
Micronutrient dilution associated with added sugar intake in elderly black South African women
Charlton, K.E, Kolbe-Alexander, T.L, Nel, J.H
Published in European journal of clinical nutrition (01.09.2005)
Published in European journal of clinical nutrition (01.09.2005)
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Journal Article
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
Hirsch, Yoel, Tangshewinsirikul, Chayada, Booth, Kevin T, Azaiez, Hela, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Brownstein, Zippora, Macarov, Michal, Davidov, Bella, Pappas, John, Rabin, Rachel, Kenna, Margaret A, Oza, Andrea M, Lafferty, Katherine, Amr, Sami S, Rehm, Heidi L, Kolbe, Diana L, Frees, Kathy, Nishimura, Carla, Luo, Minjie, Farra, Chantal, Morton, Cynthia C, Scher, Sholem Y, Ekstein, Josef, Avraham, Karen B, Smith, Richard J H, Shen, Jun
Published in European journal of human genetics : EJHG (01.06.2021)
Published in European journal of human genetics : EJHG (01.06.2021)
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