Browsing "Otolaryngology" by Keyword : Pedigree

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Showing results 1 to 6 of 6

Pub YearTitleAuthor(s)
2014A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.정주용
2000Connexin26 mutations associated with nonsyndromic hearing loss.박기현, 박홍준, 전영명, 한시훈
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김유찬, 김현주, 정선용, 정연훈
2019Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes장정훈, 정연훈
2018Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics장정훈, 정연훈
2014Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.정주용
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