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Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene
Authors: Sun, Yu Almomani, Rowida Aten, Emmelien Celli, Jacopo Breuning, Martijn H.
Citation: Sun, Yu et al., Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 146-153
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Authors: Beltrán-Valero de Bernabé, Daniel Currier, Sophie Steinbrecher, Alice Celli, Jacopo Beusekom, Ellen, Van Zwaag, Bert, Van: der Kayserili, Hülya Merlini, Luciano Chitayat, David Dobyns, William B. Cormand, Bru Lehesjoki, Ana-Elina Cruces, Jesùs Voit, Thomas Walsh, Christopher A. Bokhoven, Hans, Van Brunner, Han G.
Citation: Beltrán-valero De Bernabé, Daniel et al., Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome, American journal of human genetics , 71(5), 2002, pp. 1033-1043
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