Steve F. Dobrowolski

Publications

232

Citations

H-Index

2001

Active since

Affiliations

University of North Carolina at Chapel Hill(Current)

Steve F. Dobrowolski is an author at University of North Carolina at Chapel Hill specializing in clinical symptoms, molecular diagnostics, and diagnosis.

Top concepts

MedicineDiagnosisPathologyPediatricsPathogenesisGenetic MedicineClinical GeneticsClinical SymptomsNeonatal Multi-omicsMolecular Diagnostics

Publications per year

2001–2001

Publications

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

Brage Storstein Andresen, Steve F. Dobrowolski, Linda P. O’Reilly et al. · The American Journal of Human Genetics · 2001 · 232 citations · Full text

Clinical Symptoms, Mendelian Disorder, Prevalent Mutation +14

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