检索结果 - Trijnie Dijkhuizen

  • Showing 1 - 8 results of 8
Refine Results
  1. 1
    Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

    Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists 由 Julia el Mecky, Lennart Johansson, Mirjam Plantinga, Angela Fenwick, Anneke Lucassen, Trijnie Dijkhuizen, Annemieke van der Hout, Kate Lyle, Irene M. van Langen

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

    The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports 由 Aafke Engwerda, Barbara Frentz, A. Lya den Ouden, Boudien Flapper, Morris A. Swertz, Erica H. Gerkes, Mirjam Plantinga, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics 由 Nicolien Hanemaaijer, Birgit Sikkema‐Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J. van Essen, Hermine E. Veenstra‐Knol, Wilhelmina S. Kerstjens‐Frederikse, Johanna C. Herkert, Erica H. Gerkes, Lamberta K Leegte, Klaas Kok, Richard J. Sinke, Conny M.A. van Ravenswaaij‐Arts

    出版 2011
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism 由 Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske H. Houben, Ruben van ‘t Slot, Maretha Jonge, Wouter Staal, Frits A. Beemer, Jacob Vorstman, J. Peter H. Burbach, Hans Kristian Ploos van Amstel, Ron Hochstenbach, Eva H. Brilstra, Martin Poot

    出版 2011
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Diagnostic interpretation of array data using public databases and internet sources

    Diagnostic interpretation of array data using public databases and internet sources 由 Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir‐Kwa, Nigel P. Carter, Lars Feuk, Helen V. Firth, Robert M. Kuhn, David H. Ledbetter, Alastair J. Martin, Conny M.A. van Ravenswaaij‐Arts, Stephen W. Scherer, Soheil Shams, Steven Van Vooren, Rolf H. Sijmons, Morris A. Swertz, Ros Hastings

    出版 2012
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Central 22q11.2 deletions

    Central 22q11.2 deletions 由 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

    出版 2014
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

    Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements 由 Guy Froyen, Stefanie Belet, Francisco Martı́nez, Cíntia Barros Santos-Rebouças, Matthias Declercq, Jelle Verbeeck, Lene Donckers, Siren Berland, Sonia Mayo, Mónica Roselló, Márcia Mattos Gonçalves Pimentel, Natalia Fintelman‐Rodrigues, Randi Hovland, Suely Rodrigues dos Santos, F. Lucy Raymond, T T-Deformed d Bose, Mark Corbett, Leslie J. Sheffield, Conny M.A. van Ravenswaaij‐Arts, Trijnie Dijkhuizen, Charles Coutton, Véronique Satre, Victoria Mok Siu, Peter Marynen

    出版 2012
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature 由 Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    出版 2013
    获取全文
    Revisão
    加到收藏夹
    Saved in:

检索工具: