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Office
2200 Childrens Way
Nashville, TN 37232Phone+1 615-936-1000
Publications & Presentations
PubMed
- Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be a...Kimberly M Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K Pivnick, David Rinker
Molecular Genetics and Metabolism Reports. 2024-12-01 - A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.Yutaka Furuta, Rory J Tinker, Rizwan Hamid, Joy D Cogan, Kimberly M Ezell
Orphanet Journal of Rare Diseases. 2024-11-14 - Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.Alex F Gimeno, Rory J Tinker, Yutaka Furuta, , John A Phillips 3rd
American Journal of Medical Genetics. Part A. 2024-09-27
