Associated Papers
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
37230976 (PubMed )
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Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Tesolin P et al.
Genes, 2021
Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.
Roesch S et al.
Audiology Research, 2021
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
Roesch S et al.
International Journal of Molecular Sciences, 2018
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.
Likar T et al.
Plos One, 2018
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