Browsing "1. Journal Papers" by Author : 3552

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Issue DateTitleJournal Title
2021Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2022COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype studyHUMAN GENETICS
2022Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation HUMAN GENETICS
2020Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory RehabilitationEAR AND HEARING
2022In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model THERANOSTICS
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
2015Selective serotonin reuptake inhibitors facilitate ANO6 (TMEM16F) current activation and phosphatidylserine exposurePFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
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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