Smith RJ - Search Results

1

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

O'Neill ME, Marietta J, Nishimura D, Wayne S, Van Camp G, Van Laer L, Negrini C, Wilcox ER, Chen A, Fukushima K, Ni L, Sheffield VC, Smith RJ. O'Neill ME, et al. Among authors: smith rj. Hum Mol Genet. 1996 Jun;5(6):853-6. doi: 10.1093/hmg/5.6.853. Hum Mol Genet. 1996. PMID: 8776603

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

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

4

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

5

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

6

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

Chen AH, Ni L, Fukushima K, Marietta J, O'Neill M, Coucke P, Willems P, Smith RJ. Chen AH, et al. Among authors: smith rj. Hum Mol Genet. 1995 Jun;4(6):1073-6. doi: 10.1093/hmg/4.6.1073. Hum Mol Genet. 1995. PMID: 7655461

7

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

8

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

9

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR, et al. van Camp G, et al. Among authors: smith rj. Hum Mol Genet. 1995 Nov;4(11):2159-63. doi: 10.1093/hmg/4.11.2159. Hum Mol Genet. 1995. PMID: 8589696

10

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

Fukushima K, Ramesh A, Srisailapathy CR, Ni L, Wayne S, O'Neill ME, Van Camp G, Coucke P, Jain P, Wilcox ER, Smith SD, Kenyon JB, Zbar RI, Smith RJ. Fukushima K, et al. Among authors: smith sd, smith rj. Genome Res. 1995 Oct;5(3):305-8. doi: 10.1101/gr.5.3.305. Genome Res. 1995. PMID: 8593615 Free article.

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