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Shaffer, L.G., Theisen, A., Bejjani, B.A., Ballif, B.C., Aylsworth, A.S., Lim, C., McDonald, M., Ellison, J.W., Kostiner, D., Saitta, S. and Shaikh, T. (2007) The discovery of microdeletion syndromes in the post-genomic era: Review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genetics in Medicine, 9, 607-616. doi:10.1097/GIM.0b013e3181484b49

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