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2014
Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number.Hu, WF, Pomp O., Ben-Omran T., Kodani A., Henke K., Mochida GH, Yu TW, Woodworth MB, Bonnard C., Raj GS, Tan TT, Hamamy H., Masri A., Shboul M., Al Saffar M., Partlow JN, Al-Dosari M., Alazami A., Alowain M., Alkuraya FS, et al. Neuron, 2014/12/17, Volume 84, Issue 6, p.1240-57, (2014) Read More / View Supplemental Materials
Abstract
Mutations in CSPP1 Lead to Classical Joubert Syndrome.Akizu, N., Silhavy JL, Rosti RO, Scott E., Fenstermaker AG, Schroth J., Zaki MS, Sanchez H., Gupta N., Kabra M., Kara M., Ben-Omran T., Rosti B., Guemez-Gamboa A., Spencer E., Pan R., Cai N., Abdellateef M., Gabriel S., Halbritter J., et al. American journal of human genetics, 2014/01/02, Volume 94, Issue 1, p.80-6, (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
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