Concepedia
International Journal of Pediatric Otorhinolaryngology · 2012 · 27 citations · 30 references
Non-syndromic Hearing LossMendelian DisorderGenetic DisorderGeneticsSlovak PatientsAudiologyArtsPathologyDfnb1 MutationsHearing DisordersDisease Gene IdentificationHuman HearingNeuropathologyMedicineHearing Loss
30
A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment
Ignacio del Castillo, Manuela Villamar, Miguel A. Moreno‐Pelayo et al. · New England Journal of Medicine · 2002 · 582 citations · Full text
Profound Deafness in Childhood
Andrej Kral · New England Journal of Medicine · 2010 · 371 citations
Language Development, Hearing Aids, Recent Interdisciplinary Developments +16
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
DA Scott, ML Kraft, Rivka Carmi et al. · Human Mutation · 1998 · 251 citations
Genetics, Molecular Genetics, Disease Gene Identification +17
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews
Israela Lerer, Michal Sagi, Ziva Ben‐Neriah et al. · Human Mutation · 2001 · 220 citations · Full text
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
Nathalie Pallarès-Ruiz, Patricia Blanchet, Michel Mondain et al. · European Journal of Human Genetics · 2002 · 160 citations · Full text
Auditory Processing, Mendelian Disorder, Genetic Disorder +10