Smith RJ - Search Results

1

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.

Hildebrand MS, Gandolfo L, Shearer AE, Webster JA, Jensen M, Kimberling WJ, Stephan D, Huygen PL, Smith RJ, Bahlo M. Hildebrand MS, et al. Among authors: smith rj. Laryngoscope. 2010 Dec;120(12):2489-93. doi: 10.1002/lary.21159. Laryngoscope. 2010. PMID: 21046548 Free PMC article.

2

Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.

Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW. Kumar S, et al. Among authors: smith rj. Hum Mol Genet. 1992 Oct;1(7):491-5. doi: 10.1093/hmg/1.7.491. Hum Mol Genet. 1992. PMID: 1307249

3

Gene mapping of the Usher syndromes.

Kimberling W, Smith RJ. Kimberling W, et al. Among authors: smith rj. Otolaryngol Clin North Am. 1992 Oct;25(5):923-34. Otolaryngol Clin North Am. 1992. PMID: 1408196 Review.

4

Clinical variability and genetic heterogeneity within the Acadian Usher population.

Smith RJ, Pelias MZ, Daiger SP, Keats B, Kimberling W, Hejtmancik JF. Smith RJ, et al. Am J Med Genet. 1992 Aug 1;43(6):964-9. doi: 10.1002/ajmg.1320430612. Am J Med Genet. 1992. PMID: 1415347

5

Localization of the gene for branchiootorenal syndrome to chromosome 8q.

Smith RJ, Coppage KB, Ankerstjerne JK, Capper DT, Kumar S, Kenyon J, Tinley S, Comeau K, Kimberling WJ. Smith RJ, et al. Genomics. 1992 Dec;14(4):841-4. doi: 10.1016/s0888-7543(05)80102-8. Genomics. 1992. PMID: 1478663

6

Localization of two genes for Usher syndrome type I to chromosome 11.

Smith RJ, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJ, Jay M, Bird A, Reardon W, Guest M, et al. Smith RJ, et al. Genomics. 1992 Dec;14(4):995-1002. doi: 10.1016/s0888-7543(05)80122-3. Genomics. 1992. PMID: 1478678

7

Localization of Usher syndrome type II to chromosome 1q.

Kimberling WJ, Weston MD, Möller C, Davenport SL, Shugart YY, Priluck IA, Martini A, Milani M, Smith RJ. Kimberling WJ, et al. Among authors: smith rj. Genomics. 1990 Jun;7(2):245-9. doi: 10.1016/0888-7543(90)90546-7. Genomics. 1990. PMID: 2347588

8

Amplification of mitochondrial DNA from archival temporal bone specimens.

Simpson TA, Smith RJ. Simpson TA, et al. Among authors: smith rj. Laryngoscope. 1995 Jan;105(1):28-34. doi: 10.1288/00005537-199501000-00009. Laryngoscope. 1995. PMID: 7837910

9

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

Ni L, Wagner MJ, Kimberling WJ, Pembrey ME, Grundfast KM, Kumar S, Daiger SP, Wells DE, Johnson K, Smith RJ. Ni L, et al. Among authors: smith rj. Am J Med Genet. 1994 Jun 1;51(2):176-84. doi: 10.1002/ajmg.1320510222. Am J Med Genet. 1994. PMID: 8092199

10

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.

Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L. Smith RJ, et al. Am J Med Genet. 1994 Mar 1;50(1):32-8. doi: 10.1002/ajmg.1320500107. Am J Med Genet. 1994. PMID: 8160750

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