Resultats de la cerca - Martina Ruiterkamp‐Versteeg

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  1. 1
    Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil

    Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exo... per Ana Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten, Martina Ruiterkamp‐Versteeg, Rolph Pfundt, Nicole de Leeuw, Aparecido Divino da Cruz, Lysa Bernardes Minasi

    Publicat 2022
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  2. 2
    Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

    Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings per Ellen A. Croonen, Willy M. Nillesen, Kyra E. Stuurman, Grétel Oudesluijs, Ingrid M B M van de Laar, Liesbeth Martens, Charlotte W. Ockeloen, Inge B. Mathijssen, Marga Schepens, Martina Ruiterkamp‐Versteeg, Hans Scheffer, Brigitte H. W. Faas, Ineke van der Burgt, Helger G. Yntema

    Publicat 2013
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  3. 3
    Mutations in MED12 Cause X-Linked Ohdo Syndrome

    Mutations in MED12 Cause X-Linked Ohdo Syndrome per Anneke T. Vulto‐van Silfhout, Bert de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp‐Versteeg, Christian Gilissen, Fangjian Gao, Marloes van Zwam, Cornelis L. Harteveld, Anthonie J. van Essen, Ben C.J. Hamel, Tjitske Kleefstra, Michèl A.A.P. Willemsen, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner, Thomas G. Boyer, Arjan P.M. de Brouwer

    Publicat 2013
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  4. 4
    Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

    Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy per Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom Hofste, Martine van Zweeden, Ronny Derks, Nico Leijsten, Martina Ruiterkamp‐Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G.M. de Sain‐van der Velden, Els Voorhoeve, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, Birgit Sikkema‐Raddatz, Marcel Nelen

    Publicat 2024
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  5. 5
    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders per Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P.A. Stegmann, Servi J.C. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Lisenka E.L.M. Vissers

    Publicat 2022
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  6. 6
    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome per Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga Schepens, C Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen Simon, Casie A. Genetti, Alicia Casey, Paulien A. Terhal, Jasper J. van der Smagt, Koen L.I. van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas‐Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina Powell‐Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf A. Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva Maria Christina Schwaibold, Velibor Tasić, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra

    Publicat 2020
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