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A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
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Insufficient evidence for a role of SERPINF1 in otosclerosis
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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
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DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system
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A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
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A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment