Browsing by Author Smith, RJH

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Showing results 1 to 3 of 3
PreviewIssue DateTitleAuthor(s)AdvisorType
2003Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studydel Castillo, I; Moreno-Pelayo, MA; del Castillo, FJ; Brownstein, Z; Marlin, S; Adina, Q; Cockburn, DJ; Pandya, A; Siemering, KR; Chamberlin, GP; Ballana, E; Wuyts, W; Maciel-Guerra, AT; Alvarez, A; Villamar, M; Shohat, M; Abeliovich, D; Dahl, HHM; Estivill, X; Gasparini, P; Hutchin, T; Nance, WE; Sartorato, EL; Smith, RJH; Van Camp, G; Avraham, KB; Petit, C; Moreno, F-Artigo de periódico
2010A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expressionWilch, E; Azaiez, H; Fisher, RA; Elfenbein, J; Murgia, A; Birkenhager, R; Bolz, H; da Silva-Costa, SM; del Castillo, I; Haaf, T; Hoefsloot, L; Kremer, H; Kubisch, C; Le Marechal, C; Pandya, A; Sartorato, EL; Schneider, E; Van Camp, G; Wuyts, W; Smith, RJH; Friderici, KH-Artigo de periódico
2005A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairmentdel Castillo, FJ; Rodriguez-Ballesteros, M; Alvarez, A; Hutchin, T; Leonardi, E; de Oliveira, CA; Azaiez, H; Brownstein, Z; Avenarius, MR; Marlin, S; Pandya, A; Shahin, H; Siemering, KR; Weil, D; Wuyts, W; Aguirre, LA; Martin, Y; Moreno-Pelayo, MA; Villamar, M; Avraham, KB; Dahl, HHM; Kanaan, M; Nance, W; Petit, C; Smith, RJH; Van Camp, G; Sartorato, EL; Murgia, A; Moreno, F; del Castillo, I-Artigo de periódico