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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 CastilloHuman Molecular Genetics|October 30, 2009
Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexinsFrancisco J del Castillo, Martine Cohen-Salmon, Anne Charollais, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|January 11, 2013
Hearing is normal without connexin30Anne-Cécile Boulay, Francisco J del Castillo, Fabrice Giraudet, et al.The 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.Genes|January 8, 2025
Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS)Miloud Hammoud, María Domínguez-Ruiz, Imane Assiri, 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.Pageof 3