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CFH and CFHR Copy Number Variations in C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis.
Published in:
Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.670727
By:
- Piras, Rossella;
- Breno, Matteo;
- Valoti, Elisabetta;
- Alberti, Marta;
- Iatropoulos, Paraskevas;
- Mele, Caterina;
- Bresin, Elena;
- Donadelli, Roberta;
- Cuccarolo, Paola;
- Smith, Richard J. H.;
- Benigni, Ariela;
- Remuzzi, Giuseppe;
- Noris, Marina
Publication type:
Article
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
Published in:
2009
By:
- Kahrizi, Kimia;
- Mohseni, Marzieh;
- Nishimura, Carla;
- Bazazzadegan, Niloofar;
- Fischer, Stephanie M.;
- Dehghani, Atefeh;
- Sayfati, Morteza;
- Taghdiri, Maryam;
- Jamali, Payman;
- Smith, Richard J. H.;
- Azizi, Fereydoun;
- Najmanabi, Hossein;
- Najmabadi, Hossein
Publication type:
journal article
Exploring the When and Why of Schadenfreude.
Published in:
Social & Personality Psychology Compass, 2009, v. 3, n. 4, p. 530, doi. 10.1111/j.1751-9004.2009.00181.x
By:
- Smith, Richard H.;
- Powell, Caitlin A. J.;
- Combs, David J. Y.;
- Schurtz, David Ryan
Publication type:
Article
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
Published in:
1999
By:
- Green, Glenn E.;
- Scott, Daryl A.;
- McDonald, Joshua M.;
- Sheffield, Val C.;
- Smith, Richard J. H.;
- Green, G E;
- Scott, D A;
- McDonald, J M;
- Woodworth, G G;
- Sheffield, V C;
- Smith, R J
Publication type:
journal article
Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
Published in:
Blood Transfusion (17232007), 2014, v. 12, n. 1, p. 111, doi. 10.2450/2013.0107-13
By:
- Chaudhary, Preeti;
- Hepgur, Mehmet;
- Sarkissian, Sarmen;
- Smith, Richard J. H.;
- Weitz, Ilene C.
Publication type:
Article
Author Reply: More About When Bad News Arrives and Good News Strikes.
Published in:
Emotion Review, 2019, v. 11, n. 3, p. 262, doi. 10.1177/1754073919829224
By:
- van Dijk, Wilco W.;
- Smith, Richard H.
Publication type:
Article
Schadenfreude and Gluckschmerz.
Published in:
Emotion Review, 2018, v. 10, n. 4, p. 293, doi. 10.1177/1754073918765657
By:
- Smith, Richard H.;
- van Dijk, Wilco W.
Publication type:
Article
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 11, p. 3951, doi. 10.3390/ijms21113951
By:
- Booth, Kevin T.;
- Azaiez, Hela;
- Smith, Richard J. H.
Publication type:
Article
Methods of Simplified Saliva Collection for the Measurement of Drugs of Abuse, Therapeutic Drugs, and Other Molecules.
Published in:
Annals of the New York Academy of Sciences, 1993, v. 694, n. 1, p. 311, doi. 10.1111/j.1749-6632.1993.tb18374.x
By:
- SCHRAMM, WILLFRIED;
- SMITH, RICHARD H.;
- CRAIG, PAUL A.
Publication type:
Article
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Published in:
Human Genetics, 2023, v. 142, n. 6, p. 819, doi. 10.1007/s00439-023-02559-9
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.
Publication type:
Article
The hearing-impaired patient: what the future holds.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 307, doi. 10.1007/s00439-022-02447-8
By:
- Smith, Richard J. H.
Publication type:
Article
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 401, doi. 10.1007/s00439-022-02440-1
By:
- Bu, Fengxiao;
- Zhong, Mingjun;
- Chen, Qinyi;
- Wang, Yumei;
- Zhao, Xia;
- Zhang, Qian;
- Li, Xiarong;
- Booth, Kevin T.;
- Azaiez, Hela;
- Lu, Yu;
- Cheng, Jing;
- Smith, Richard J. H.;
- Yuan, Huijun
Publication type:
Article
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 877, doi. 10.1007/s00439-021-02424-7
By:
- Thorpe, Ryan K.;
- Walls, W. Daniel;
- Corrigan, Rae;
- Schaefer, Amanda;
- Wang, Kai;
- Huygen, Patrick;
- Casavant, Thomas L.;
- Smith, Richard J. H.
Publication type:
Article
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 853, doi. 10.1007/s00439-021-02340-w
By:
- Thorpe, Ryan K.;
- Azaiez, Hela;
- Wu, Peina;
- Wang, Qiuju;
- Xu, Lei;
- Dai, Pu;
- Yang, Tao;
- Schaefer, G. Bradley;
- Peters, B. Robert;
- Chan, Kenny H.;
- Schatz, Krista S.;
- Bodurtha, Joann;
- Robin, Nathaniel H.;
- Hirsch, Yoel;
- Rahbeeni, Zuhair Abdalla;
- Yuan, Huijun;
- Smith, Richard J. H.
Publication type:
Article
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.
Published in:
BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6421039
By:
- Joshi, Charuta;
- Kolbe, Diana L.;
- Mansilla, M. Adela;
- Mason, Sara O.;
- Smith, Richard J. H.;
- Campbell, Colleen A.
Publication type:
Article
Complement Factor I Variants in Complement-Mediated Renal Diseases.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.866330
By:
- Zhang, Yuzhou;
- Goodfellow, Renee X.;
- Ghiringhelli Borsa, Nicolo;
- Dunlop, Hannah C.;
- Presti, Stephen A.;
- Meyer, Nicole C.;
- Shao, Dingwu;
- Roberts, Sarah M.;
- Jones, Michael B.;
- Pitcher, Gabriella R.;
- Taylor, Amanda O.;
- Nester, Carla M.;
- Smith, Richard J. H.
Publication type:
Article
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 6, p. 549, doi. 10.1007/s10038-007-0137-2
By:
- Van Laer, Lut;
- Meyer, Nicole C.;
- Malekpour, Mahdi;
- Riazalhosseini, Yasser;
- Moghannibashi, Mahdi;
- Kahrizi, Kimia;
- Vandevelde, Ann;
- Alasti, Fatemeh;
- Najmabadi, Hossein;
- Van Camp, Guy;
- Smith, Richard J. H.
Publication type:
Article
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 3, p. 302, doi. 10.1002/ajmg.c.32009
By:
- Ben Moshe, Yishay;
- Bekheirnia, Nasim;
- Smith, Richard J. H.;
- Hicks, John;
- Braun, Michael C.;
- Bekheirnia, Mir Reza
Publication type:
Article
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 3, p. 344, doi. 10.1002/ajmg.c.31986
By:
- Heiderscheit, Amanda K.;
- Hauer, Jill J.;
- Smith, Richard J. H.
Publication type:
Article
Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement.
Published in:
Kidney International, 2013, v. 83, n. 2, p. 293, doi. 10.1038/ki.2012.384
By:
- Sethi, Sanjeev;
- Fervenza, Fernando C;
- Zhang, Yuzhou;
- Zand, Ladan;
- Meyer, Nicole C;
- Borsa, Nicolò;
- Nasr, Samih H;
- Smith, Richard J H
Publication type:
Article
The Authors Reply:.
Published in:
Kidney International, 2012, v. 82, n. 5, p. 611, doi. 10.1038/ki.2012.221
By:
- Sethi, Sanjeev;
- Smith, Richard J H
Publication type:
Article
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up.
Published in:
2012
By:
- Sethi S;
- Fervenza FC;
- Zhang Y;
- Zand L;
- Vrana JA;
- Nasr SH;
- Theis JD;
- Dogan A;
- Smith RJ;
- Sethi, Sanjeev;
- Fervenza, Fernando C;
- Zhang, Yuzhou;
- Zand, Ladan;
- Vrana, Julie A;
- Nasr, Samih H;
- Theis, Jason D;
- Dogan, Ahmet;
- Smith, Richard J H
Publication type:
journal article
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up.
Published in:
Kidney International, 2012, v. 82, n. 4, p. 465, doi. 10.1038/ki.2012.212
By:
- Sethi, Sanjeev;
- Fervenza, Fernando C;
- Zhang, Yuzhou;
- Zand, Ladan;
- Vrana, Julie A;
- Nasr, Samih H;
- Theis, Jason D;
- Dogan, Ahmet;
- Smith, Richard J H
Publication type:
Article
Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion.
Published in:
Kidney International, 2012, v. 81, n. 5, p. 434, doi. 10.1038/ki.2011.399
By:
- Sethi, Sanjeev;
- Nester, Carla M;
- Smith, Richard J H
Publication type:
Article
Mortality in the pediatric patient with tracheotomy.
Published in:
Head & Neck, 1995, v. 17, n. 5, p. 403, doi. 10.1002/hed.2880170507
By:
- Dutton, Jay M.;
- Palmer, Phyllis M.;
- McCulloch, Timothy M.;
- Smith, Richard J. H.
Publication type:
Article
Trends in the use of tracheotomy in the pediatric patient: The Iowa experience.
Published in:
Head & Neck, 1995, v. 17, n. 4, p. 328, doi. 10.1002/hed.2880170409
By:
- Palmer, Phyllis M.;
- Dutton, Jay M.;
- McCulloch, Timothy M.;
- Smith, Richard J. H.
Publication type:
Article
Human embryology and teratology. By Roana O'Rahilla, Fabiola Muller. Wiley-Liss, Inc., New York, 1992, 336 pp, $159.95.
Published in:
Head & Neck, 1993, v. 15, n. 6, p. 586, doi. 10.1002/hed.2880150620
By:
- Smith, Richard J. H.
Publication type:
Article
Controversies: Neonatal vocal cord paralysis.
Published in:
Head & Neck, 1993, v. 15, n. 2, p. 169, doi. 10.1002/hed.2880150215
By:
- Snyderman, Nancy L.;
- Smith, Richard J. H.;
- Benjamin, Bruce N.;
- Gray, Steve D.;
- Bailey, C. Martin
Publication type:
Article
Atlas of clinical otolaryngology. Edited by Bingham, Hawke, Kwok, Mosby Yearbook, St. Louis, 1992, 206 pp.
Published in:
Head & Neck, 1993, v. 15, n. 3, p. 279, doi. 10.1002/hed.2880150323
By:
- Biovati, Michael J.;
- Smith, Richard J. H.
Publication type:
Article
Nasopharyngeal angiofibroma.
Published in:
Head & Neck, 1992, v. 14, n. 1, p. 67, doi. 10.1002/hed.2880140115
By:
- Snyderman, Nancy L.;
- Smith, Richard J. H.;
- Gantz, Bruce;
- Seid, Allan B.;
- Weber, Randal S.
Publication type:
Article
Laryngotracheal stenosis: A 5-year review.
Published in:
Head & Neck, 1991, v. 13, n. 2, p. 140, doi. 10.1002/hed.2880130210
By:
- Smith, Richard J. H.;
- Catlin, Francis L.
Publication type:
Article
Association of Bone Morphogenetic Proteins With Otosclerosis.
Published in:
Journal of Bone & Mineral Research, 2008, v. 23, n. 4, p. 507, doi. 10.1359/JBMR.071112
By:
- Schrauwen, Isabelle;
- Thys, Melissa;
- Vanderstraeten, Kathleen;
- Fransen, Erik;
- Dieltjens, Nele;
- Huyghe, Jeroen R.;
- Ealy, Megan;
- Claustres, Mireille;
- Cremers, Cor R. W. J.;
- Dhooge, Ingeborg;
- Declau, Frank;
- Van De Heyning, Paul;
- Vincent, Robert;
- Somers, Thomas;
- Offeciers, Erwin;
- Smith, Richard J. H.;
- Van Camp, Guy
Publication type:
Article
Flexible models for planning repair of complex tracheal anomalies.
Published in:
2012
By:
- Kacmarynski, Deborah S F;
- Amendola, Richard;
- Reinhardt, Joseph M;
- Smith, Richard J H
Publication type:
Journal Article
Use of portfolios in otolaryngology graduate medical education.
Published in:
Laryngoscope, 2011, v. 121, n. 6, p. 1173, doi. 10.1002/lary.21803
By:
- Gurgel, Richard K.;
- Miller, Robert A.;
- Smith, Richard J. H.
Publication type:
Article
The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population.
Published in:
Laryngoscope, 2011, v. 121, n. 6, p. 1184, doi. 10.1002/lary.21778
By:
- Ealy, Megan;
- Lynch, Katherine A.;
- Meyer, Nicole C.;
- Smith, Richard J. H.
Publication type:
Article
Pediatric endoscopic airway management with posterior cricoid rib grafting.
Published in:
Laryngoscope, 2011, v. 121, n. 5, p. 1062, doi. 10.1002/lary.21579
By:
- Provenzano, Matthew J.;
- Hulstein, Stephanie L.;
- Solomon, Donald H.;
- Bauman, Nancy M.;
- Manaligod, Jose M.;
- Kacmarynski, Deborah S. F.;
- Smith, Richard J. H.
Publication type:
Article
Current treatment paradigms in the management of lymphatic malformations.
Published in:
Laryngoscope, 2011, v. 121, n. 1, p. 56, doi. 10.1002/lary.20768
By:
- Renton, John P.;
- Smith, Richard J. H.
Publication type:
Article
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
Published in:
Laryngoscope, 2010, v. 120, n. 12, p. 2489, doi. 10.1002/lary.21159
By:
- Hildebrand, Michael S.;
- Gandolfo, Luke;
- Shearer, A. Eliot;
- Webster, Jennifer A.;
- Jensen, Maren;
- Kimberling, William J.;
- Stephan, Dietrich;
- Huygen, Patrick L. M.;
- Smith, Richard J. H.;
- Bahlo, Melanie
Publication type:
Article
Degrees of dysplasia and the use of cidofovir in patients with recurrent respiratory papillomatosis.
Published in:
Laryngoscope, 2010, v. 120, n. 4, p. 698, doi. 10.1002/lary.20785
By:
- Gupta, Hina T.;
- Robinson, Robert A.;
- Murray, Ryan C.;
- Karnell, Lucy H.;
- Smith, Richard J. H.;
- Hoffman, Henry T.
Publication type:
Article
A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.
Published in:
Laryngoscope, 2009, v. 119, n. 11, p. 2211, doi. 10.1002/lary.20664
By:
- Hildebrand, Michael S.;
- DeLuca, Adam P.;
- Taylor, Kyle R.;
- Hoskinson, David P.;
- Hur, In Ae;
- Tack, Dylan;
- McMordie, Sarah J.;
- Huygen, Patrick L. M.;
- Casavant, Thomas L.;
- Smith, Richard J. H.
Publication type:
Article
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
Published in:
Laryngoscope, 2009, v. 119, n. 4, p. 727, doi. 10.1002/lary.20116
By:
- Shearer, A. Eliot;
- Hildebrand, Michael S.;
- Webster, Jennifer A.;
- Kahrizi, Kimia;
- Meyer, Nicole C.;
- Jalalvand, Khadijeh;
- Arzhanginy, Sanaz;
- Kimberling, William J.;
- Stephan, Dietrich;
- Bahlo, Melanie;
- Smith, Richard J. H.;
- Najmabadi, Hossein
Publication type:
Article
Monitoring stress levels in postgraduate medical training.
Published in:
Laryngoscope, 2009, v. 119, n. 1, p. 75, doi. 10.1002/lary.20013
By:
- Hill, Justin D.;
- Smith, Richard J. H.
Publication type:
Article
Efficacy and safety of OK-432 immunotherapy of lymphatic malformations.
Published in:
Laryngoscope, 2009, v. 119, n. 1, p. 107, doi. 10.1002/lary.20041
By:
- Smith, Mark C.;
- Zimmerman, M. Bridget;
- Burke, Diane K.;
- Bauman, Nancy M.;
- Sato, Yutaka;
- Smith, Richard J. H.
Publication type:
Article
In reference to temporal bone imaging in GJB2 deafness.
Published in:
2007
By:
- Azaiez H;
- Smith RJ;
- Azaiez, Hela;
- Smith, Richard J H
Publication type:
Letter
Hearing genes and cisplatin deafness: a pilot study.
Published in:
2006
By:
- Knoll C;
- Smith RJH;
- Shores C;
- Blatt J;
- Knoll, Christine;
- Smith, Richard J H;
- Shores, Carol;
- Blatt, Julie
Publication type:
journal article
The effect of GJB2 allele variants on performance after cochlear implantation.
Published in:
2003
By:
- Bauer, Paul W;
- Geers, Ann E;
- Brenner, Christine;
- Moog, Jean S;
- Smith, Richard J H
Publication type:
journal article
The Effect of GJB2 Allele Variants on Performance After Cochlear Implantation.
Published in:
Laryngoscope, 2003, v. 113, n. 12, p. 2135
By:
- Paul W. Bauer;
- Ann E. Geers;
- Christine Brenner;
- Jean S. Moog;
- Richard J. H. Smith
Publication type:
Article
Genetic Testing and Genetic Counseling for Deafness: The Future Is Here.
Published in:
Laryngoscope, 2001, v. 111, n. 4, p. 715, doi. 10.1097/00005537-200104000-00027
By:
- Brunger, Jeannie Weir;
- Matthews, Anne L.;
- Smith, Richard H. J.;
- Robin, Nathaniel H.
Publication type:
Article
Age-Related Mitochondrial DNA Mutations in the Human Larynx.
Published in:
Laryngoscope, 2000, v. 110, n. 12, p. 2123, doi. 10.1097/00005537-200012000-00029
By:
- Manaligod, Jose M.;
- Milam, Michael;
- Hill, Sarah Ann;
- Sanders, Tammy;
- Skaggs, Jennifer;
- Smith, Richard J. H.
Publication type:
Article
Temporal Bone Histopathology in Connexin 26-Related Hearing Loss.
Published in:
Laryngoscope, 2000, v. 110, n. 2, p. 269, doi. 10.1097/00005537-200002010-00016
By:
- Jun, Andrew I.;
- McGuirt, Wyman T.;
- Hinojosa, Raul;
- Green, Glenn E.;
- Fischel-Ghodsian, Nathan;
- Smith, Richard J. H.
Publication type:
Article

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