Search Results - Trijnie Dijkhuizen

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  1. 1
    Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

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

    Published 2019
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  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 by 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

    Published 2018
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  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 by 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

    Published 2011
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  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 by 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

    Published 2011
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  5. 5
    Diagnostic interpretation of array data using public databases and internet sources

    Diagnostic interpretation of array data using public databases and internet sources by 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

    Published 2012
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  6. 6
    Central 22q11.2 deletions

    Central 22q11.2 deletions by 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

    Published 2014
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  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 by 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

    Published 2012
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  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 by 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

    Published 2013
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