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2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Akizu, N., Cantagrel V., Zaki MS, Al-Gazali L., Wang X., Rosti RO, Dikoglu E., Gelot AB, Rosti B., Vaux KK, Scott EM, Silhavy JL, Schroth J., Copeland B., Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G., et al. Nature genetics, 2015/04/06, (2015) 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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