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Corrine O. Smith

University of Washington

10

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236

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Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

2013 Human Mutation
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Two Novel Mutations in ABHD12 Expand the Mutation Spectrum in PHARC (P05.141)

2012 Neurology
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Neurogenetics new things

2011
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders: Where is the Evidence?—Reply

2005 JAMA Neurology
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Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders

2004 JAMA Neurology
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Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia

2001 JAMA Neurology
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