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Results: 1-11 |
Results: 11
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians
Authors: Tekin, M Akar, N Cin, S Blanton, SH Xia, XJ Liu, XZ Nance, WE Pandya, A
Citation: M. Tekin et al., Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians, HUM GENET, 108(5), 2001, pp. 385-389
Haplotype analysis of the USH1D locus and genotype-phenotype correlations
Authors: Liu, XZ Blanton, SH Bitner-Glindzicz, M Pandya, A Landa, B MacArdle, B Rajput, K Bellman, S Webb, BT Ping, X Smith, RJH Nance, WE
Citation: Xz. Liu et al., Haplotype analysis of the USH1D locus and genotype-phenotype correlations, CLIN GENET, 60(1), 2001, pp. 58-62
Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome
Authors: Hecht, JT Blanton, SH Broussard, S Scott, A Hall, CR Milunsky, JM
Citation: Jt. Hecht et al., Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome, CLIN GENET, 59(3), 2001, pp. 198-200
Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability
Authors: Volcik, KA Blanton, SH Northrup, H
Citation: Ka. Volcik et al., Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability, AM J HU GEN, 69(5), 2001, pp. 1150-1152
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
Authors: Liu, XZ Xia, XJ Xu, LR Pandya, A Liang, CY Blanton, SH Brown, SDM Steel, KP Nance, WE
Citation: Xz. Liu et al., Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss, HUM MOL GEN, 9(1), 2000, pp. 63-67
Confirmation of the mapping of the Camurati-Englemann locus to 19q13.2 andrefinement to a 3.2-cM region
Authors: Vaughn, SP Broussard, S Hall, CR Scott, A Blanton, SH Milunsky, JM Hecht, JT
Citation: Sp. Vaughn et al., Confirmation of the mapping of the Camurati-Englemann locus to 19q13.2 andrefinement to a 3.2-cM region, GENOMICS, 66(1), 2000, pp. 119-121
Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics
Authors: Volcik, KA Blanton, SH Tyerman, GH Jong, ST Rott, EJ Page, TZ Romaine, NK Northrup, H
Citation: Ka. Volcik et al., Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics, AM J MED G, 95(1), 2000, pp. 21-27
No evidence supporting MTHFR as a risk factor in the development of familial NSCLP
Authors: Blanton, SH Kolle, BS Hecht, JT Mulliken, JB Martin, ER
Citation: Sh. Blanton et al., No evidence supporting MTHFR as a risk factor in the development of familial NSCLP, AM J MED G, 92(5), 2000, pp. 370-371
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome
Authors: Ferguson, PJ Blanton, SH Saulsbury, FT McDuffie, MJ Lemahieu, V Gastier, JM Francke, U Borowitz, SM Sutphen, JL Kelly, TE
Citation: Pj. Ferguson et al., Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome, AM J MED G, 90(5), 2000, pp. 390-397
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations
Authors: Blanton, SH Pandya, A Landa, BL Javaheri, R Xia, XJ Nance, WE Pomponio, RJ Norrgard, KJ Swango, KL Demirkol, M Gulden, H Coskun, T Tokatli, A Ozalp, I Wolf, B
Citation: Sh. Blanton et al., Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations, HUMAN HERED, 50(2), 2000, pp. 102-111
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
Authors: Sullivan, LS Heckenlively, JR Bowne, SJ Zuo, J Hide, WA Gal, A Denton, M Inglehearn, CF Blanton, SH Daiger, SP
Citation: Ls. Sullivan et al., Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa, NAT GENET, 22(3), 1999, pp. 255-259
Risultati: 1-11 |