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Buscar por Autor del Castillo, I
Mostrando resultados 1 a 8 de 8
| Fecha de publicación | Título | Autor(es) | | jun-2007 | A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss | Modamio-Høybjør, S; Mencía, A; Goodyear, R; del Castillo, I; Richardson, G; Moreno, F; Moreno-Pelayo, MA |
| feb-2008 | A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression | Mencía, A; Gómez-Nieto, D; Modamio-Høybjør, S; Etxeberría, A; Aranguez, G; Salvador, N; del Castillo, I; Villarroel, A; Moreno, F; Barrio, L; Moreno-Pelayo, MA |
| ene-2023 | A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29 | Modamio-Høybjør, S; Moreno-Pelayo, MA; Mencía, A; del Castillo, I; Chardenoux, S; Armenta, D; Lathrop, M; Petite, C; Moreno, F |
| feb-2004 | A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci | Modamio-Høybjør, S; Moreno-Pelayo, MA; Mencía, A; del Castillo, I; Chardenoux, S; Morais, D; Lathrop, M; Petite, C; Moreno, F |
| nov-2023 | DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 | Moreno-Pelayo, MA; Modamio-Høybjør, S; Mencía, A; del Castillo, I; Chardenoux, S; Fernández-Burriel, M; Lathrop, M; Petite, C; Moreno, F |
| jul-2011 | DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss | Hildebrand, MS; Morín, M; Meyer, NC; Mayo-Merino, F; Modamio-Høybjør, S; Mencía, A; Olavarrieta, L; Morales-Angulo, Carmelo; Nishimura, CJ; Workman, H; DeLuca, AP; del Castillo, I; Taylor, KR; Tompkins, B; Goodman, CW; Schrauwen, I; Van Wesemael, M; Lachlan, K; Shearer, AE; Braun, TA; Huygen, PLM; Kremer, H; Van Camp, G; Moreno, F; Casavant, TL; Smith, RJH; Moreno-Pelayo, MA |
| ago-2009 | In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment | Morín, M; Bryan, KE; Mayo-Merino, F; Goodyear, R; Mencía, A; Modamio-Høybjør, S; del Castillo, I; Cabalka, JM; Richardson, GP; Moreno, F; Rubenstein, PA; Moreno-Pelayo, MA |
| may-2009 | Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss | Mencía, A; Modamio-Høybjør, S; Redshaw, N; Morín, M; Mayo-Merino, F; Olavarrieta, L; Aguirre, LA; del Castillo, I; Steel, KP; Dalmay, T; Moreno, F; Moreno-Pelayo, MA |
Mostrando resultados 1 a 8 de 8
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