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Richard J Smith
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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
GS Hageman, DH Anderson, LV Johnson, LS Hancox, AJ Taiber, ...
Proceedings of the National Academy of Sciences 102 (20), 7227-7232, 2005
23632005
Sensorineural hearing loss in children
RJH Smith, JF Bale, KR White
The Lancet 365 (9462), 879-890, 2005
10372005
The hereditary hearing loss homepage
G Van Camp, RJH Smith
Journal of audiological medicine/International Association of Physicians in …, 1997
8351997
C3 glomerulopathy: consensus report
MC Pickering, VD D'agati, CM Nester, RJ Smith, M Haas, GB Appel, ...
Kidney international 84 (6), 1079-1089, 2013
7022013
GJB2 mutations and degree of hearing loss: a multicenter study
RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ...
The American Journal of Human Genetics 77 (6), 945-957, 2005
6822005
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
N Hilgert, RJH Smith, G Van Camp
Mutation Research/Reviews in Mutation Research 681 (2-3), 189-196, 2009
6752009
Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a “Kidney Disease: Improving Global Outcomes”(KDIGO) Controversies Conference
THJ Goodship, HT Cook, F Fakhouri, FC Fervenza, V Frémeaux-Bacchi, ...
Kidney international 91 (3), 539-551, 2017
6692017
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
JM Bork, LM Peters, S Riazuddin, SL Bernstein, ZM Ahmed, SL Ness, ...
The American Journal of Human Genetics 68 (1), 26-37, 2001
6372001
Congenital hearing loss
AMH Korver, RJH Smith, G Van Camp, MR Schleiss, ...
Nature reviews Disease primers 3 (1), 1-17, 2017
6002017
Nonsyndromic hearing impairment: unparalleled heterogeneity.
G Van Camp, PJ Willems, RJ Smith
American journal of human genetics 60 (4), 758, 1997
5471997
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
GE Green, DA Scott, JM McDonald, GG Woodworth, VC Sheffield, ...
Jama 281 (23), 2211-2216, 1999
5201999
Membranoproliferative glomerulonephritis type II (dense deposit disease): an update
GB Appel, HT Cook, G Hageman, JC Jennette, M Kashgarian, ...
Journal of the American Society of Nephrology 16 (5), 1392-1403, 2005
5182005
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
CM Sloan-Heggen, AO Bierer, AE Shearer, DL Kolbe, CJ Nishimura, ...
Human genetics 135, 441-450, 2016
5062016
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
RG Ruf, PX Xu, D Silvius, EA Otto, F Beekmann, UT Muerb, S Kumar, ...
Proceedings of the National Academy of Sciences 101 (21), 8090-8095, 2004
4992004
Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
K Verhoeven, LV Laer, K Kirschhofer, PK Legan, DC Hughes, ...
Nature genetics 19 (1), 60-62, 1998
4441998
Eculizumab for dense deposit disease and C3 glomerulonephritis
AS Bomback, RJ Smith, GR Barile, Y Zhang, EC Heher, L Herlitz, ...
Clinical Journal of the American Society of Nephrology 7 (5), 748-756, 2012
4282012
Clinical diagnosis of the Usher syndromes
RJH Smith, CI Berlin, JF Hejtmancik, BJB Keats, WJ Kimberling, RA Lewis, ...
American journal of medical genetics 50 (1), 32-38, 1994
4121994
Nonsyndromic hearing impairment is associated with a mutation in DFNA5
LV Laer, EH Huizing, M Verstreken, D Zuijlen, JG Wauters, PJ Bossuyt, ...
Nature genetics 20 (2), 194-197, 1998
3981998
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations
C Campbell, RA Cucci, S Prasad, GE Green, JB Edeal, CE Galer, ...
Human mutation 17 (5), 403-411, 2001
3882001
Laryngomalacia and its treatment
DR Olney, JH Greinwald Jr, RJH Smith, NM Bauman
The Laryngoscope 109 (11), 1770-1775, 1999
3841999
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