Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss von 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.

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C3 glomerulopathy — understanding a rare complement-driven renal disease von Smith, Richard J. H., Appel, Gerald B., Blom, Anna M., Cook, H. Terence, D’Agati, Vivette D, Fakhouri, Fadi, Fremeaux-Bacchi, Véronique, Józsi, Mihály, Kavanagh, David, Lambris, John D., Noris, Marina, Pickering, Matthew C., Remuzzi, Giuseppe, de Córdoba, Santiago Rodriguez, Sethi, Sanjeev, Van der Vlag, Johan, Zipfel, Peter F., Nester, Carla M.

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Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome von FENGXIAO BU, MAGA, Tara, MEYER, Nicole C, KAI WANG, THOMAS, Christie P, NESTER, Carla M, SMITH, Richard J. H

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The hearing-impaired patient: what the future holds von Smith, Richard J. H.

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing von Shearer, A. Eliot, DeLuca, Adam P., Hildebrand, Michael S., Taylor, Kyle R., Gurrola, José, Scherer, Steve, Scheetz, Todd E., Smith, Richard J. H., King, Mary-Claire

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A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse von Nakano, Yoko, Jahan, Israt, Bonde, Gregory, Sun, Xingshen, Hildebrand, Michael S, Engelhardt, John F, Smith, Richard J H, Cornell, Robert A, Fritzsch, Bernd, Bánfi, Botond

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Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein von Avenarius, Matthew R., Hildebrand, Michael S., Zhang, Yuzhou, Meyer, Nicole C., Smith, Luke L.H., Kahrizi, Kimia, Najmabadi, Hossein, Smith, Richard J.H.

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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach von Yan, Denise, Xiang, Guangxin, Chai, Xingping, Qing, Jie, Shang, Haiqiong, Zou, Bing, Mittal, Rahul, Shen, Jun, Smith, Richard J H, Fan, Yao-Shan, Blanton, Susan H, Tekin, Mustafa, Morton, Cynthia, Xing, Wanli, Cheng, Jing, Liu, Xue Zhong

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Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct ( DFNB4) von Yang, Tao, Vidarsson, Hilmar, Rodrigo-Blomqvist, Sandra, Rosengren, Sally S., Enerbäck, Sven, Smith, Richard J.H.

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Gene therapy for hearing loss von Omichi, Ryotaro, Shibata, Seiji B, Morton, Cynthia C, Smith, Richard J H

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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice von Azaiez, Hela, Decker, Amanda R, Booth, Kevin T, Simpson, Allen C, Shearer, A Eliot, Huygen, Patrick L M, Bu, Fengxiao, Hildebrand, Michael S, Ranum, Paul T, Shibata, Seiji B, Turner, Ann, Zhang, Yuzhou, Kimberling, William J, Cornell, Robert A, Smith, Richard J H

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Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome von Yang, Tao, Gurrola, Jose G., Wu, Hao, Chiu, Sui M., Wangemann, Philine, Snyder, Peter M., Smith, Richard J.H.

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Efficacy and safety of OK-432 immunotherapy of lymphatic malformations von Smith, Mark C., Zimmerman, M. Bridget, Burke, Diane K., Bauman, Nancy M., Sato, Yutaka, Smith, Richard J. H.

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CFTR-deficient pigs display peripheral nervous system defects at birth von Reznikov, Leah R., Dong, Qian, Chen, Jeng-Haur, Moninger, Thomas O., Park, Jung Min, Zhang, Yuzhou, Du, Jianyang, Hildebrand, Michael S., Smith, Richard J. H., Randak, Christoph O., Stoltz, David A., Welsh, Michael J.

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A claudin-9-based ion permeability barrier is essential for hearing von Nakano, Yoko, Kim, Sung H, Kim, Hyoung-Mi, Sanneman, Joel D, Zhang, Yuzhou, Smith, Richard J H, Marcus, Daniel C, Wangemann, Philine, Nessler, Randy A, Bánfi, Botond

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C3 glomerulopathy associated with monoclonal Ig is a distinct subtype von Ravindran, Aishwarya, Fervenza, Fernando C., Smith, Richard J.H., Sethi, Sanjeev

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Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion von Sethi, Sanjeev, Nester, Carla M., Smith, Richard J.H.

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Grxcr2 is required for stereocilia morphogenesis in the cochlea von Avenarius, Matthew R, Jung, Jae-Yun, Askew, Charles, Jones, Sherri M, Hunker, Kristina L, Azaiez, Hela, Rehman, Atteeq U, Schraders, Margit, Najmabadi, Hossein, Kremer, Hannie, Smith, Richard J H, Géléoc, Gwenaëlle S G, Dolan, David F, Raphael, Yehoash, Kohrman, David C

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Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome von Hoskins, Bethan E., Cramer, Carl H., Silvius, Derek, Zou, Dan, Raymond, Richard M., Orten, Dana J., Kimberling, William J., Smith, Richard J.H., Weil, Dominique, Petit, Christine, Otto, Edgar A., Xu, Pin-Xian, Hildebrandt, Friedhelm

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C3 glomerulonephritis with a severe crescentic phenotype von Ravindran, Aishwarya, Fervenza, Fernando C., Smith, Richard J. H., Sethi, Sanjeev

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