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Research Interests

Papers共 22 篇Author StatisticsCo-AuthorSimilar Experts

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Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs
Vanessa Rangel Miller,Sean Daugherty, Rupal N. Gupta, Madhuri Hegde, Jennifer Johnson,Deborah Marsden,Laura Pollard, Eric Peng, Kate Simmons, Natalie Smith,Nicole Miller
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
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Revealing the genetic complexity of long-chain fatty acid oxidation disorders: Insights from a dynamic locus-specific gene database
Peter Baker,Vanessa Rangel Miller, Heather Richbourg,Jerry Vockley, Omid Japalaghi,Moeenaldeen AlSayed,Mark J. Kiel, Stephanie Monteleone,Sean Daugherty, Aneal Khan, Lawrence Korgnut,Deborah Marsden,
Molecular Genetics and Metabolismno. 4 (2024): 108206
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