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Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.
Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Gstoettner W, Frei K, Lucas T. Parzefall T, et al. Among authors: frohne a. Wien Klin Wochenschr. 2018 May;130(9-10):299-306. doi: 10.1007/s00508-017-1230-y. Epub 2017 Jul 21. Wien Klin Wochenschr. 2018. PMID: 28733840 Free PMC article.
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.
Parzefall T, Frohne A, Koenighofer M, Neesen J, Laccone F, Eckl-Dorna J, Waters JJ, Schreiner M, Amr SS, Ashton E, Schoefer C, Gstœttner W, Frei K, Lucas T. Parzefall T, et al. Among authors: frohne a. Front Cell Neurosci. 2020 Nov 12;14:585669. doi: 10.3389/fncel.2020.585669. eCollection 2020. Front Cell Neurosci. 2020. PMID: 33281559 Free PMC article.
21 results