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2014
Expanding the Phenotype Associated With the NEFL Mutation: Neuromuscular Disease in a Family With Overlapping Myopathic and Neurogenic Findings.Agrawal, PB, Joshi M., Marinakis NS, Schmitz-Abe K., Ciarlini PD, Sargent JC, Markianos K., De Girolami U., Chad DA, and Beggs AH JAMA neurology, 2014/09/29, (2014) Read More / View Supplemental Materials
Abstract
2013
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism.Yu, TW, Chahrour MH, Coulter ME, Jiralerspong S., Okamura-Ikeda K., Ataman B., Schmitz-Abe K., Harmin DA, Adli M., Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J., Nasir RH, Ware J., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.259-273, (2013) Read More / View Supplemental Materials
Abstract
  • Showing 1-2 of 2 Results