Extralabyrinthine Manifestations of DFNA9

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Journal of the Association for Research in Otolaryngology

• Publication date

  2011-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s10162-010-0245-0PMID 21052762PMCID PMC3046331
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  1991influential reference
• Theory and Practice of Histotechnology

  1980influential reference
• Pathology of the Ear

  1974cited by this paper

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