Resultats de la cerca - Yolande van Bever

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  1. 1
    The biology of germ cell tumors in disorders of sex development

    The biology of germ cell tumors in disorders of sex development per Remko Hersmus, Yolande van Bever, Katja P. Wolffenbuttel, Katharina Biermann, Martine Cools, Leendert H. J. Looijenga

    Publicat 2016
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  2. 2
    Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)

    Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) per Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, Stefaan Scheers, J. Wauters, Berten Ceulemans, Jenneke van den Ende, Yolande van Bever, R. Frank Kooy

    Publicat 2003
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  3. 3
    <i>ACTG2</i>variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

    <i>ACTG2</i>variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome per Danny Halim, Robert M.W. Hofstra, Luca Signorile, Robert M. Verdijk, Christine S. van der Werf, Yunia Sribudiani, Rutger W. W. Brouwer, Wilfred F. J. van IJcken, Niklas Dahl, Joanne Verheij, Clarisse Baumann, John A. Kerner, Yolande van Bever, Niels Galjart, René Wijnen, Dick Tibboel, Alan J. Burns, Françoise Müller, Alice S. Brooks, Maria M. Alves

    Publicat 2015
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  4. 4
    Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency

    Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency per Lidewij Sophia Boogers, Hennie T. Brüggenwirth, Katja P. Wolffenbuttel, Remko Hersmus, Jillian Bryce, S. Faisal Ahmed, Angela K Lucas‐Herald, Federico Baronio, Martine Cools, Mona Ellaithi, Evgenia Globa, Tülay Güran, Olaf Hiort, Paul‐Martin Holterhus, Kenneth MсElreavey, Marek Niedziela, Marianna Rita Stancampiano, Büşra Gürpınar Tosun, Yolande van Bever, J. Wolter Oosterhuis, Leendert H. J. Looijenga, Sabine E Hannema

    Publicat 2025
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  5. 5
    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations per Mariëlle Alders, Antonella Mendola, Lesley C. Adès, Lihadh Al Gazali, Carlo Bellini, Bruno Dallapiccola, Patrick Edery, Ulrich Frank, F. Hornshuh, Sanne Huisman, Sujatha Jagadeesh, Hülya Kayserili, Wee Teik Keng, Dorit Lev, Carlos E. Prada, J Sampson, J. Schmidtke, Vandana Shashi, Yolande van Bever, Nathalie Van der Aa, Judith M.A. Verhagen, Johanna B. G. M. Verheij, Miikka Vikkula, Raoul C. M. Hennekam

    Publicat 2012
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  6. 6
    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 per 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

    Publicat 2012
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  7. 7
    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 per 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

    Publicat 2012
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  8. 8
    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients per Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

    Publicat 2010
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