Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment von Rendtorff, Nanna D., Lodahl, Marianne, Boulahbel, Houda, Johansen, Ida R., Pandya, Arti, Welch, Katherine O., Norris, Virginia W., Arnos, Kathleen S., Bitner-Glindzicz, Maria, Emery, Sarah B., Mets, Marilyn B., Fagerheim, Toril, Eriksson, Kristina, Hansen, Lars, Bruhn, Helene, Möller, Claes, Lindholm, Sture, Ensgaard, Stefan, Lesperance, Marci M., Tranebjaerg, Lisbeth

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Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands von Pandya, Arti, Arnos, Kathleen S, Xia, Xia J, Welch, Katherine O, Blanton, Susan H, Friedman, Thomas B, Garcia Sanchez, Guillermina, Liu MD, Xiu Z, Morell, Robert, Nance, Walter E

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Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR von Orten, Dana J, Fischer, Stephanie M, Sorensen, Jessica L, Radhakrishna, Uppala, Cremers, Cor W.R.J, Marres, Henri A.M, Van Camp, Guy, Welch, Katherine O, Smith, Richard J.H, Kimberling, William J

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Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss von Liu, Xue Zhong, Ouyang, Xiao Mei, Xia, Xia Juan, Zheng, Jing, Pandya, Arti, Li, Fang, Du, Li Lin, Welch, Katherine O., Petit, Christine, Smith, Richard J.H., Webb, Bradley T., Yan, Denise, Arnos, Kathleen S., Corey, David, Dallos, Peter, Nance, Walter E., Chen, Zheng Yi

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A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart von Arnos, Kathleen S., Welch, Katherine O., Tekin, Mustafa, Norris, Virginia W., Blanton, Susan H., Pandya, Arti, Nance, Walter E.

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Compound heterozygosity for dominant and recessive GJB2 mutations: Effect on phenotype and review of the literature von Welch, Katherine O., Marin, Ruth S., Pandya, Arti, Arnos, Kathleen S.

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Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness von XUE ZHONG LIU, XIA JUAN XIA, ARNOS, Kathleen S, NANCE, Walter E, ADAMS, Joe, ZHENG YI CHEN, WELCH, Katherine O, TEKIN, Mustafa, XIAO MEI OUYANG, KRISTIANSEN, Arther, PANDYA, Arti, BALKANY, Thomas

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Vestibular dysfunction in DFNB1 deafness von Dodson, Kelley M., Blanton, Susan H, Welch, Katherine O, Norris, Virginia W, Nuzzo, Regina L, Wegelin, Jacob A., Marin, Ruth S, Nance, Walter E, Pandya, Arti, Arnos, Kathleen S

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Fitness Among Individuals with Early Childhood Deafness: Studies in Alumni Families from Gallaudet University von Blanton, Susan H., Nance, Walter E., Norris, Virginia W., Welch, Katherine O., Burt, Amber, Pandya, Arti, Arnos, Kathleen S.

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Compound heterozygosity for dominant and recessive GJB2 mutations : Effect on phenotype and review of the literature: Special issue: The genetic basis of deafness von WELCH, Katherine O, MARIN, Ruth S, PANDYA, Arti, ARNOS, Kathleen S

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Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands von Pandya, Arti, Arnos, Kathleen S., Xia, Xia J., Welch, Katherine O., Blanton, Susan H., Friedman, Thomas B., Sanchez, Guillermina Garcia, Liu, Xiu Z., Morell, Robert, Nance, Walter E.

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Free Cholesterol Accumulation in Macrophage Membranes Activates Toll-Like Receptors and p38 Mitogen-Activated Protein Kinase and Induces Cathepsin K von Sun, Yu, Ishibashi, Minako, Seimon, Tracie, Lee, Mingsum, Sharma, Sudarshana M, Fitzgerald, Katherine A, Samokhin, Andriy O, Wang, Yibin, Sayers, Scott, Aikawa, Masanori, Jerome, W Gray, Ostrowski, Michael C, Bromme, Dieter, Libby, Peter, Tabas, Ira A, Welch, Carrie L, Tall, Alan R

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Sulfide Generation by Dominant Halanaerobium Microorganisms in Hydraulically Fractured Shales von Booker, Anne E, Borton, Mikayla A, Daly, Rebecca A, Welch, Susan A, Nicora, Carrie D, Hoyt, David W, Wilson, Travis, Purvine, Samuel O, Wolfe, Richard A, Sharma, Shikha, Mouser, Paula J, Cole, David R, Lipton, Mary S, Wrighton, Kelly C, Wilkins, Michael J

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The use of diary methods to evaluate daily experiences in first-episode psychosis von Welch, Katherine G., Stiles, Bryan J., Palsson, Olafur S., Meyer-Kalos, Piper S., Perkins, Diana O., Halverson, Tate F., Penn, David L.

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A Prospective Study of Depression Following Combat Deployment in Support of the Wars in Iraq and Afghanistan von Wells, Timothy S, LeardMann, Cynthia A, Fortuna, Sarah O, Smith, Besa, Smith, Tyler C, Ryan, Margaret A. K, Boyko, Edward J, Blazer, Dan, Millennium Cohort Study Team

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Human-specific tandem repeat expansion and differential gene expression during primate evolution von Sulovari, Arvis, Li, Ruiyang, Audano, Peter A., Porubsky, David, Vollger, Mitchell R., Logsdon, Glennis A., Warren, Wesley C., Pollen, Alex A., Chaisson, Mark J. P., Eichler, Evan E.

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Individual Factors Including Age, BMI, and Heritable Factors Underlie Temperature Variation in Sickness and in Health: An Observational, Multi-cohort Study von Penfold, Rose S, Zazzara, Maria Beatrice, Österdahl, Marc F, Welch, Carly, Ni Lochlainn, Mary, Freidin, Maxim B, Bowyer, Ruth C E, Thompson, Ellen, Antonelli, Michela, Tan, Yu Xian Rachel, Sudre, Carole H, Modat, Marc, Murray, Benjamin, Wolf, Jonathan, Ourselin, Sebastien, Veenith, Tonny, Lord, Janet M, Steves, Claire J

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Geriatric Assessment Reveals Actionable Impairments in Hematopoietic Stem Cell Transplantation Candidates Age 18 to 80 Years von Lew, Meagan V., Ren, Yi, Lowder, Yen P., Siamakpour-Reihani, Sharareh, Ramalingam, Sendhilnathan, Romero, Kristi M., Thompson, Jillian C., Bohannon, Lauren M., McIntyre, Jackie, Tang, Helen, Van Opstal, Jolien, Johnson, Ernaya, Cohen, Harvey Jay, Bartlett, David B., Pastva, Amy M., Morey, Miriam, Hall, Katherine S., Smith, Patrick, Peters, Katherine B., Somers, Tamara J., Kelleher, Sarah, Smith, Sophia K., Wischmeyer, Paul E., Lin, Pao-Hwa, Wood, William A., Thorpe, Glynnis, Minor, Kerry, Wiggins, Kristi, Hennig, Therese, Helms, Tanya, Welch, Renee, Matthews, Brittany, Liu, JoAnn, Burleson, Jill, Aberant, Thomas, Engemann, Ashley K., Henshall, Bethany, Darby, Maurisa, Proch, Christina, Dellascio, Michelle, Pittman, Alyssa, Suminguit, Jacob, Choi, Taewoong, Gasparetto, Cristina, Long, Gwynn D., Lopez, Richard D., Sarantopoulos, Stefanie, Horwitz, Mitchell E., Chao, Nelson J., Sung, Anthony D.

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Preparation and value assignment of standard reference material 968e fat-soluble vitamins, carotenoids, and cholesterol in human serum von Thomas, Jeanice B., Duewer, David L., Mugenya, Isaac O., Phinney, Karen W., Sander, Lane C., Sharpless, Katherine E., Sniegoski, Lorna T., Tai, Susan S., Welch, Michael J., Yen, James H.

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Integrating Research, Quality Improvement, and Medical Education for Better Handoffs and Safer Care: Disseminating, Adapting, and Implementing the I-PASS Program von Starmer, Amy J., Srivastava, Rajendu, Landrigan, Christopher P., Srivastava, Rajendu, Ali, Arshia, Allair, Brenda K., Atsatt, Marisa, Bale, James F., Bates, Kimberly, Calaman, Sharon, Campe, Julie, Campos, Maria Lucia, Chandler, Debra, Cheung, Yvonne, Choudhary, Amanda, Christensen, Eileen, Clark, Katherine, Coffey, Maitreya, Coghlan-McDonald, Sally, Cohen, Ellen, Corless, Elizabeth, Dalal, Anuj K., Dreyer, Benard, duPont, Katharine, Eagle, Steven, Edgar-Zarate, Courtney, Feraco, Angela M., Ferrer, Alexandra, Galardy, Paul, Goldstein, Jenna, Good, Brian P., Graham, Dionne A, Growdon, Amanda S., Guiot, Amy, Hecht, Melvyn, Hehn, Rebecca S, Held, Justin, Hepps, Jennifer H., Howell, Eric, Hrach, Christine, Kaatz, Scott, Kantrowitz, Michael, Kaplan, Peter, Kashiwagi, Deanne, Kaul, Rajat, Keohane, Carol A., Kern, Jeremy, Khan, Alisa, Kocolas, Irene, Kothari, Lara, Kruvand, Elizabeth, Kuzma, Nicholas, Lacy, Mary, Lane, Michele, Ledford, Christy J.W., Lewis, Kheyandra, Litterer, Katherine P., Lopreiato, Joseph O., Mack, Avram, Markle, Peggy, Marrese, Christine, Marseille, David, Mehta, Bijal, Mendoza, Fernando, Mercer, Alexandra N., Mims, Lisa, Ngo, Thuy L., Obermeyer, Maria, O'Toole, Jennifer K., Owolabi, Mobola, Patel, Aarti, Patel, Shilpa J., Perron, Catherine, Popa, Alina, Reppert, Patrick, Riss, Robert, Rogers, Jayne E., Rosenbluth, Glenn, Schnipper, Jeff, Schnock, Kumiko O, Seltz, Barry, Serra, Theresa, Serwint, Janet, Shah, Samir, Sharma, Meesha, Sheppard, Kathleen, Southgate, Michael W, Subramony, Anupama, Surkis, William, Toole, Cheryl, Tse, Lisa, Wagner, Tamara, Warnick, Cindy, Webster, John, Weinerman, Adina, Welch, Chelsea, White, Andrew J., Winn, Ariel S., Yin, H. Shonna, Yoon, Catherine S.

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