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Richard J Smith
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researcher ORCID ID = 0000-0003-1201-6731
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Works
4
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
article published in 2008
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
scientific article
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
scientific article
Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population
scholarly article published in American Journal of Medical Genetics
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Instance of
Human
Occupation
Researcher
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