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2014
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures.Zhang, X., Ling J., Barcia G., Jing L., Wu J., Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q., Poduri A., Partlow JN, Ville D., Dulac O., Yu TW, Lam AT, Servattalab S., Rodriguez J., Boddaert N., Munnich A., et al. American journal of human genetics, 2014/04/03, Volume 94, Issue 4, p.547-58, (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
2006
DNA sequence and analysis of human chromosome 8.Nusbaum, C., Mikkelsen TS, Zody MC, Asakawa S., Taudien S., Garber M., Kodira CD, Schueler MG, Shimizu A., Whittaker CA, Chang JL, Cuomo CA, Dewar K., FitzGerald MG, Yang X., Allen NR, Anderson S., Asakawa T., Blechschmidt K., Bloom T., et al. Nature, 2006/01/19, Volume 439, Issue 7074, p.331-5, (2006) Read More / View Supplemental Materials
Abstract
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