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Results: 3
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
Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization
Authors: White, Stefan Kalf, Margot Liu, Qiang Villerius, Michel Engelsma, Dieuwke Kriek, Marjolein Vollebregt, Ellen Bakker, Bert van Ommen, Gert-Jan B. Breuning, Martijn H. den Dunnen, Johan T.
Citation: White, Stefan et al., Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization, American journal of human genetics , 71(2), 2002, pp. 365-374
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
Authors: Roelfsema, Jeroen H. White, Stefan J. Ariyürek, Yavuz Bartholdi, Deborah Niedrist, Dunja Papadia, Francesco Bacino, Carlos A. den Dunnen, Johan T. van Ommen, Gert-Jan B. Breuning, Martijn H. Hennekam, Raoul C: Peters, Dorien J.M.
Citation: H. Roelfsema, Jeroen et al., Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease, American journal of human genetics , 76(4), 2005, pp. 572-580
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