Search Results - Moritz Meins

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  1. 1
    Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

    Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome by Moritz Meins

    Published 2005
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  2. 2
    Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

    Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions by Franco Laccone, Peter Huppke, F. Hanefeld, Moritz Meins

    Published 2001
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  3. 3
    Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

    Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2) by Kathrin Engelfried, Matthias Vorgerd, Michaela Hagedorn, Gerhard Haas, Jürgen Gilles, Jörg T. Epplen, Moritz Meins

    Published 2006
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  4. 4
    MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin

    MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin by Ralf Ulrich Trappe, Franco Laccone, Joana Cobilanschi, Moritz Meins, Peter Huppke, F. Hanefeld, Wolfgang Engel

    Published 2001
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  5. 5
    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... by Horacio Astudillo‐de la Vega, Alison H. Trainer, Miriam Gordillo, Moira Crosier, Hülya Kayserili, Flemming Skovby, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, E Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Raoul C. M. Hennekam, Ethylin Wang Jabs

    Published 2009
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  6. 6
    The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

    The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity by Miriam Gordillo, Hugo Vega, Alison H. Trainer, Fajian Hou, Norio Sakai, Ricardo Luque, Hülya Kayserili, Seher Başaran, Flemming Skovby, Raoul C. M. Hennekam, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, Susan Chang, Edward Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Roger A. Schultz, Lisa D. McDaniel, Keiichi Ozono, Koji Inui, Hui Zou, Ethylin Wang Jabs

    Published 2008
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