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2015
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.Nakayama, T., Al-Maawali A., El-Quessny M., Rajab A., Khalil S., Stoler JM, Tan WH, Nasir R., Schmitz-Abe K., Hill RS, Partlow JN, Al-Saffar M., Servattalab S., LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G., Barkovich AJ, Markianos K., et al. American journal of human genetics, 2015/04/08, (2015) Read More / View Supplemental Materials
Abstract
Loss of PCLO function underlies pontocerebellar hypoplasia type III.Ahmed, MY, Chioza BA, Rajab A., Schmitz-Abe K., Al-Khayat A., Al-Turki S., Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S., Markianos K., Walsh CA, Crosby AH, and Mochida GH Neurology, 2015/04/01, (2015) Read More / View Supplemental Materials
Abstract
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 1-4 of 4 Results