Soluble C5b-9 as a Biomarker for Complement Activation in Atypical Hemolytic Uremic Syndrome von Bu, Fengxiao, MS, Meyer, Nicole C., BS, Zhang, Yuzhou, PhD, Borsa, Nicolo Ghiringhelli, BS, Thomas, Christie, MD, Nester, Carla, MD, Smith, Richard J.H., MD

Volltext

International Pediatric ORL Group (IPOG) laryngomalacia consensus recommendations von Carter, John, Rahbar, Reza, Brigger, Matthew, Chan, Kenny, Cheng, Alan, Daniel, Sam J, De Alarcon, Alessandro, Garabedian, Noel, Hart, Catherine, Hartnick, Christopher, Jacobs, Ian, Liming, Bryan, Nicollas, Richard, Pransky, Seth, Richter, Gresham, Russell, John, Rutter, Michael J, Schilder, Anne, Smith, Richard J.H, Strychowsky, Julie, Ward, Robert, Watters, Karen, Wyatt, Michelle, Zalzal, George, Zur, Karen, Thompson, Dana

Volltext

Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency von Joshi, Charuta, Kolbe, Diana L, Mansilla, M. Adela, Mason, Sara, Smith, Richard J.H, Campbell, Colleen A

Volltext

Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4 -/- mouse von Koh, Jin-Young, Affortit, Corentin, Ranum, Paul T, West, Cody, Walls, William D, Yoshimura, Hidekane, Shao, Jian Q, Mostaert, Brian, Smith, Richard J H

Volltext

Hair Cell Transduction Efficiency of Single- and Dual-AAV Serotypes in Adult Murine Cochleae von Omichi, Ryotaro, Yoshimura, Hidekane, Shibata, Seiji B., Vandenberghe, Luk H., Smith, Richard J.H.

Volltext

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes von Azaiez, Hela, Booth, Kevin T., Ephraim, Sean S., Crone, Bradley, Black-Ziegelbein, Elizabeth A., Marini, Robert J., Shearer, A. Eliot, Sloan-Heggen, Christina M., Kolbe, Diana, Casavant, Thomas, Schnieders, Michael J., Nishimura, Carla, Braun, Terry, Smith, Richard J.H.

Volltext

C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic von Ravindran, Aishwarya, Fervenza, Fernando C., Smith, Richard J.H., De Vriese, An S., Sethi, Sanjeev

Volltext

Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing von 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.

Volltext

C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up von Sethi, Sanjeev, Fervenza, Fernando C., Zhang, Yuzhou, Zand, Ladan, Vrana, Julie A., Nasr, Samih H., Theis, Jason D., Dogan, Ahmet, Smith, Richard J.H.

Volltext

RNA Interference Prevents Autosomal-Dominant Hearing Loss von Shibata, Seiji B., Ranum, Paul T., Moteki, Hideaki, Pan, Bifeng, Goodwin, Alexander T., Goodman, Shawn S., Abbas, Paul J., Holt, Jeffrey R., Smith, Richard J.H.

Volltext

Complement inhibition in C3 glomerulopathy von Nester, Carla M, Smith, Richard J.H

Volltext

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome von Maga, Tara K, Nishimura, Carla J, Weaver, Amy E, Frees, Kathy L, Smith, Richard J.H

Volltext

Causes of Alternative Pathway Dysregulation in Dense Deposit Disease von Zhang, Yuzhou, Meyer, Nicole C, Wang, Kai, Nishimura, Carla, Frees, Kathy, Jones, Michael, Katz, Louis M, Sethi, Sanjeev, Smith, Richard J H

Volltext

C3 Glomerulonephritis Associated With Monoclonal Gammopathy: A Case Series von Zand, Ladan, MD, Kattah, Andrea, MD, Fervenza, Fernando C., MD, PhD, Smith, Richard J.H., MD, Nasr, Samih H., MD, Zhang, Yuzhou, PhD, Vrana, Julie A., PhD, Leung, Nelson, MD, Cornell, Lynn D., MD, Sethi, Sanjeev, MD, PhD

Volltext

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies von 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

Volltext

integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss von Guipponi, Michel, Toh, Min-Yen, Tan, Justin, Park, Daeho, Hanson, Kelly, Ballana, Ester, Kwong, David, Cannon, Ping Z.F, Wu, Qingyu, Gout, Alex, Delorenzi, Mauro, Speed, Terence P, Smith, Richard J.H, Dahl, Henrik H, Petersen, Michael, Teasdale, Rohan D, Estivill, Xavier, Park, Woo Jin, Scott, Hamish S

Volltext

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37 von Booth, Kevin T., Askew, James W., Talebizadeh, Zohreh, Huygen, Patrick L. M., Eudy, James, Kenyon, Judith, Hoover, Denise, Hildebrand, Michael S., Smith, Katherine R., Bahlo, Melanie, Kimberling, William J., Smith, Richard J. H., Azaiez, Hela, Smith, Shelley D.

Volltext

Characterization of C3 in C3 glomerulopathy von Sethi, Sanjeev, Vrana, Julie A, Fervenza, Fernando C, Theis, Jason D, Sethi, Amit, Kurtin, Paul J, Zhang, Yuzhou, Smith, Richard J H

Volltext

International Pediatric Otolaryngology Group (IPOG) Consensus Recommendations: Hearing Loss in the Pediatric Patient von Liming, Bryan J., MD, Carter, John, Cheng, Alan, Choo, Daniel, Curotta, John, Carvalho, Daniela, Germiller, John A, Hone, Stephen, Kenna, Margaret A, Loundon, Natalie, Preciado, Diego, Schilder, Anne, Reilly, Brian J, Roman, Stephane, Strychowsky, Julie, Triglia, Jean Michel, Young, Nancy, Smith, Richard J.H

Volltext

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.

Volltext