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Related Experiment Videos

Glossary for hereditary hearing impairment

Markus H F Pfister1, Heidi L Rehm

  • 1Department of Otolaryngology, Tubingen, Germany. mpfisterhgmp.mrc.ac.uk

Ear and Hearing
|August 19, 2003
PubMed
Summary

No abstract available in PubMed .

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