Search Results - "Bendová, Olga"
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Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)
Published in Annals of human genetics (01-07-2010)“…Summary Mutations in SLC26A4 cause Pendred syndrome (PS) – hearing loss with goitre – or DFNB4 – non‐syndromic hearing loss (NSHL) with inner ear abnormalities…”
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Journal Article -
2
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
Published in American journal of human genetics (01-12-2005)“…Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity,…”
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Journal Article