Browsing Makale Koleksiyonu by Author "van de Heyning, Paul"
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A new pathogenic variant in the TRIOBP associated with profound deafness is remediable with cochlear implantation
Tekin, Ahmet Mahmut; de Ceulaer, Geert; Govaerts, Paul; Bayazıt, Yıldırım; Wuyts, Wim; van de Heyning, Paul; Topsakal, Vedat (Karger, 2021)Background and Objectives: A rare type of nonsyndromic autosomal recessive hereditary hearing loss is caused by pathogenic mutations in the TRIOBP gene mostly involving exons 6 and 7. These mutations cause hearing loss ...