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Frontiers in Molecular Neuroscience|January 10, 2018
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated PhenotypesFrancisco J Del Castillo, Ignacio Del CastilloFrontiers in Bioscience (Landmark Edition)|May 31, 2011
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairmentFrancisco J del Castillo, Ignacio del CastilloFrontiers in Bioscience (Landmark Edition)|December 29, 2011
Genetics of isolated auditory neuropathiesFrancisco J Del Castillo, Ignacio Del CastilloThe New England Journal of Medicine|January 25, 2002
A deletion involving the connexin 30 gene in nonsyndromic hearing impairmentIgnacio del Castillo, Manuela Villamar, Miguel A Moreno-Pelayo, et al.International Journal of Molecular Sciences|July 12, 2025
De Novo Heterozygous <i>GATA3</i> Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive InheritanceMaría Domínguez-Ruiz, Gema Garrido, Paz Martínez-Beneyto, et al.Plos One|September 17, 2013
A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairmentMarta Gandía, Francisco J Del Castillo, Francisco J Rodríguez-Álvarez, et al.Pediatric Research|March 19, 2015
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counselingMarta Gandía, Joaquín Fernández-Toral, Juan Solanellas, et al.BMC Genomics|April 11, 2024
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological studyMaría Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, et al.Biomedicines|November 25, 2023
Novel Pathogenic Variants in the Gene Encoding Stereocilin (<i>STRC</i>) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean SubjectsMaría Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio, et al.Pageof 8