Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss

ανά Migliosi, V, Modamio-Hoybjor, S, Moreno-Pelayo, M, Rodriguez-Ballest..., M, Villamar, M, Telleria, D, Menendez, I, Moreno, F, del Castillo, I
Έκδοση 2002

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss

ανά del Castillo, F J, Rodriguez-Ballest..., M, Martin, Y, Arellano, B, Gallo-Teran, J, Morales-Angulo, C, Ramirez-Camacho, R, Cruz, T, Solanellas, J, Martinez-Conde, A, Villamar, M, Moreno-Pelayo, M, Moreno, F, del Castillo, I
Έκδοση 2003

A 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 impai...

ανά del Castillo, F J, Rodriguez-Ballest..., M, Alvarez, A, Hutchin, T, Leonardi, E, de Oliveira, C A, Azaiez, H, Brownstein, Z, Avenarius, M, Marlin, S, Pandya, A, Shahin, H, Siemering, K, Weil, D, Wuyts, W, Aguirre, L, Martin, Y, Moreno-Pelayo, M, Villamar, M, Avraham, K, Dahl, H, Kanaan, M, Nance, W, Petit, C, Smith, R, Van Camp, G, Sartorato, E, Murgia, A, Moreno, F, del Castillo, I
Έκδοση 2005