Search Results - Bianca M. de Graaf

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  1. 1
    ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux

    ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux by Aida M. Bertoli‐Avella, Maria Luisa Conte, Francesca Punzo, Bianca M. de Graaf, Giuliana Lama, Angela La Manna, Cesare Polito, Carolina Grassia, Brúno Nobili, Pier Francesco Rambaldi, Ben A. Oostra, Silverio Perrotta

    Published 2008
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  2. 2
    A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

    A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia by John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat‐Kievit, Peter A. J. Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink

    Published 2003
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  3. 3
    Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

    Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome by Danny Halim, Erwin Brosens, Françoise Müller, Michael F. Wangler, Arthur L. Beaudet, James R. Lupski, Zeynep H. Coban Akdemir, Michael Doukas, Hans Stoop, Bianca M. de Graaf, Rutger W. W. Brouwer, Wilfred F. J. van IJcken, Jean‐François Oury, Jonathan Rosenblatt, Alan J. Burns, Dick Tibboel, Robert M.W. Hofstra, Maria M. Alves

    Published 2017
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  4. 4
    <i>NPHP4</i> Variants Are Associated With Pleiotropic Heart Malformations

    <i>NPHP4</i> Variants Are Associated With Pleiotropic Heart Malformations by Vanessa French, Ingrid M.B.H. van de Laar, Marja W. Wessels, Christan F. Rohé, Jolien W. Roos‐Hesselink, Guangliang Wang, Ingrid M.E. Frohn-Mulder, Lies‐Anne Severijnen, Bianca M. de Graaf, Rachel Schot, Guido J. Breedveld, Edwin Mientjes, Marianne van Tienhoven, Elodie Jadot, Zhengxin Jiang, Annemieke J.M.H. Verkerk, Sigrid M.A. Swagemakers, Hanka Venselaar, Zohreh Rahimi, Hossein Najmabadi, Hanne Meijers-Heijboer, Esther de Graaff, Wim A. Helbing, Rob Willemsen, Koenraad Devriendt, John W. Belmont, Ben A. Oostra, Jeffrey D. Amack, Aida M. Bertoli‐Avella

    Published 2012
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  5. 5
    Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

    Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections by Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M.A. Verhagen, Bianca M. de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P. T. Kruithof, Hanka Venselaar, Loretha Myers, Steven Laga, Alexander Doyle, Gretchen Oswald, Gert W. A. van Cappellen, Itaru Yamanaka, R.M. van der Helm, Berna Beverloo, Annelies de Klein, Luba M. Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T. Brüggenwirth, Frans W. Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M. Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert M.W. Hofstra, Marie‐José Goumans, Jos A. Bekkers, Jolien W. Roos‐Hesselink, Ingrid M.B.H. van de Laar, Harry C. Dietz, Lut Van Laer, Takayuki Morisaki, Marja W. Wessels, Bart Loeys

    Published 2015
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