Canlyniadau Chwilio - Sonja de Munnik

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Mireinio'r Canlyniadau
  1. 1
    Central 22q11.2 deletions

    Central 22q11.2 deletions gan Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    Cyhoeddwyd 2014
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  2. 2
    Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

    Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder gan Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak, Max H. Stone, Margot R.F. Reijnders, Sonja de Munnik, Marjolein H. Willemsen, Michaela Fencková, Connie T. R. M. Stumpel, Levinus A. Bok, Margarita Sáenz, Kyna A. Byerly, Linda B. Baughn, Alexander P.A. Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M. Kramer

    Cyhoeddwyd 2017
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  3. 3
    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations gan Charlotte W. Ockeloen, Marjolein H. Willemsen, Sonja de Munnik, Bregje W.M. van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, Elizabeth A. Jones, Han G. Brunner, Rosa Laura E. van Loon, Eric Smeets, Mieke M. van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniené, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas J. J. Maal, Celeste C. van Heumen, Helger G. Yntema, Carine Carels, Tjitske Kleefstra

    Cyhoeddwyd 2014
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  4. 4
    Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

    Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study gan Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal, Lidewij Henneman, Mireille N. Bekker, Caroline J. Bax, Mijntje J. Pieters, Katelijne Bouman, Sonja de Munnik, Nicolette S. den Hollander, Karin E. M. Diderich, Brigitte H. W. Faas, Ilse Feenstra, Attie T. J. I. Go, Mariëtte J.V. Hoffer, Marieke Joosten, Fenne L. Komdeur, Klaske D. Lichtenbelt, Maria Lombardi, Marike Polak, Fernanda Sarquis Jehee, Heleen Schuring‐Blom, Servi J.C. Stevens, Malgorzata I. Srebniak, Ron F. Suijkerbuijk, Gita Tan-Sindhunata, Karuna R. M. van der Meij, Merel C. van Maarle, Vivian Vernimmen, Shama L. van Zelderen‐Bhola, Nicolien T. van Ravesteyn, Maarten F. C. M. Knapen, Merryn Macville, Robert‐Jan H. Galjaard

    Cyhoeddwyd 2022
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  5. 5
    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP gan Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L. Hood, Oana Caluseriu, Jane A. Hurst, Usha Kini, Małgorzata J.M. Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith Allanson, Paolo Balestri, Tawfeg Ben‐Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrèe, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne Hendriks, Delphine Héron, Alexander Hoischen, Engela Honey, Lies H. Hoefsloot, Jennifer Ibrahim, Claire M Jacob, Sarina G. Kant, Chong Ae Kim, Edwin P. Kirk, Nine V.A.M. Knoers, Didier Lacombe, Chung Lee, Ivan F. M. Lo, Luiza Silveira Lucas, Francesca Mari, Verónica Mericq, Jukka S. Moilanen, Sanne Traasdahl Møller, Stéphanie Moortgat, Daniela T. Pilz, Kate Pope, Susan Price, Alessandra Renieri, Joaquim Sá, Jeroen Schoots, Elizabeth Lemos Silveira, Marleen Simon, Anne Slavotinek, I. Karen Temple, Ineke van der Burgt, Bert B.A. de Vries, James D. Weisfeld‐Adams, Margo L. Whiteford, Dagmar Wierczorek, Jan M. Wit, Connie Fung On Yee, Chandree L. Beaulieu, Sue M. White, Dennis E. Bulman, Ernie M.H.F. Bongers, Han G. Brunner, Murray Feingold, Kym M. Boycott

    Cyhoeddwyd 2013
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