Browsing "1. Journal Papers" by Author : 4658

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Issue DateTitleJournal Title
2015Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene EXPERIMENTAL AND MOLECULAR MEDICINE
2022OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin AUTOPHAGY
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2019The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report BMC MEDICAL GENETICS
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