Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements

Por South, Sarah T., Rector, Lyndsey, Aston, Emily, Rowe, Leslie, Yang, Samuel P.
Publicado em 2010

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Por Bedoyan, Jirair K., Yang, Samuel P., Ferdinandusse, Sacha, Jack, Rhona M., Miron, Alexander, Grahame, George, DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Wanders, Ronald J. A.
Publicado no Mol Genet Metab (2017)