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Items: 4

1.

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.

Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK.

BMC Med Genet. 2014 Mar 6;15:30. doi: 10.1186/1471-2350-15-30.

2.

Targeted exome sequencing of suspected mitochondrial disorders.

Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK.

Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40.

3.

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

Lieber DS, Vafai SB, Horton LC, Slate NG, Liu S, Borowsky ML, Calvo SE, Schmahmann JD, Mootha VK.

BMC Med Genet. 2012 Jan 6;13:3. doi: 10.1186/1471-2350-13-3.

4.

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells.

Shaham O, Slate NG, Goldberger O, Xu Q, Ramanathan A, Souza AL, Clish CB, Sims KB, Mootha VK.

Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1571-5. doi: 10.1073/pnas.0906039107.

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