Resultados de búsqueda - C. T. R. M. Schrander‐Stumpel

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  1. 1
    Triple X syndrome: a review of the literature

    Triple X syndrome: a review of the literature por Maarten Otter, C. T. R. M. Schrander‐Stumpel, Leopold Curfs

    Publicado 2009
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  2. 2
    Behavioral phenotype in adults with Prader–Willi syndrome

    Behavioral phenotype in adults with Prader–Willi syndrome por Margje Sinnema, Stewart Einfeld, C. T. R. M. Schrander‐Stumpel, Marian A. Maaskant, Harm Boer, Leopold Curfs

    Publicado 2011
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  3. 3
    Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

    Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD por Marjolijn Renard, Bert Callewaert, Machteld Baetens, Laurence Campens, Kay MacDermot, Jean‐Pierre Fryns, M Bonduelle, Harry C. Dietz, Isabel Gaspar, Diogo Cavaco, Eva-Lena Stattin, C. T. R. M. Schrander‐Stumpel, Paul Coucke, Bart Loeys, Anne De Paepe, Julie De Backer

    Publicado 2011
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  4. 4
    Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

    Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis por Yvonne J. Vos, Hermien E. K. de Walle, K. K. Bos, Arjan Stegeman, Annelies M. ten Berge, Monique J. Bruining, Merel C. van Maarle, Mariet W. Elting, Nicolette S. den Hollander, B Hamel, Ana María Fortuna, Lone Sunde, Irene Stolte‐Dijkstra, C. T. R. M. Schrander‐Stumpel, Robert M.W. Hofstra

    Publicado 2009
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  5. 5
    MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

    MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression por Suzanna G.M. Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Macville, Kees van Roozendaal, C T R M Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean‐Pierre Fryns, Ben C.J. Hamel, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gécz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen, Andreas W. Kuß

    Publicado 2008
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  6. 6
    MLL2 mutation spectrum in 45 patients with Kabuki syndrome

    MLL2 mutation spectrum in 45 patients with Kabuki syndrome por Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric Smeets, Annemieke Wagemans, Jaap J.P. Schrander, Marie-José H. van den Boogaard, Jasper van der Smagt, Arie van Haeringen, Irene Stolte‐Dijkstra, Wilhelmina S. Kerstjens‐Frederikse, Grazia M.S. Mancini, Marja W. Wessels, Raoul C. M. Hennekam, Maaike Vreeburg, Joep Geraedts, Thomy de Ravel, Jean‐Pierre Fryns, Hubert Smeets, Koenraad Devriendt, C. T. R. M. Schrander‐Stumpel

    Publicado 2010
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  7. 7
    REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

    REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 por Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu, Berry Kremer, Suzanna G.M. Frints, Wendy A.G. van Zelst–Stams, P. Byrne, Susanne Otto, Anders O.H. Nygren, Jonathan Baets, Katrien Smets, Berten Ceulemans, Bernard Dan, Narasimhan Nagan, Jan Kassubek, Sven Klimpe, Thomas Klopstock, Henning Stolze, Hubert J.M. Smeets, C. T. R. M. Schrander‐Stumpel, Michael Hutchinson, Bart P.C. van de Warrenburg, Corey Braastad, Thomas Deufel, Margaret A. Pericak‐Vance, Lüdger Schöls, Peter De Jonghe, Stephan Züchner

    Publicado 2008
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  8. 8
    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis por Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, Jill Clayton‐Smith, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, Jeroen Schoots, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Publicado 2012
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  9. 9
    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder por Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, George F. Borm, Jill Clayton‐Smith, Cheri Deal, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, A. Erik Sluiter, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Publicado 2012
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