Smith RJ - Search Results

1

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H. Shearer AE, et al. Among authors: smith rj. Laryngoscope. 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116. Laryngoscope. 2009. PMID: 19274735 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

Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.

Keats BJ, Todorov AA, Atwood LD, Pelias MZ, Hejtmancik JF, Kimberling WJ, Leppert M, Lewis RA, Smith RJ. Keats BJ, et al. Among authors: smith rj. Genomics. 1992 Nov;14(3):707-14. doi: 10.1016/s0888-7543(05)80172-7. Genomics. 1992. PMID: 1427898

6

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

7

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

8

A progress report on the localization of Usher syndrome type II to chromosome 1q.

Weston MD, Kimberling WJ, Möller CG, Pieke Dahl S, Smith RJ, Martini A, Milani M. Weston MD, et al. Among authors: smith rj. Ann N Y Acad Sci. 1991;630:284-7. doi: 10.1111/j.1749-6632.1991.tb19606.x. Ann N Y Acad Sci. 1991. PMID: 1952607 No abstract available.

9

Report on attempts to localize Usher syndrome type 1 by linkage analysis to selected candidate regions.

Pieke Dahl S, Weston MD, Kimberling WJ, Kenyon JB, Shugart YY, Smith RJ. Pieke Dahl S, et al. Among authors: smith rj. Ann N Y Acad Sci. 1991;630:298-300. doi: 10.1111/j.1749-6632.1991.tb19612.x. Ann N Y Acad Sci. 1991. PMID: 1952612 No abstract available.

10

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

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