检索结果 - Birgit Sikkema‐Raddatz

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  1. 1
    Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

    Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent 由 Wybo Dondorp, Birgit Sikkema‐Raddatz, Christine de Die‐Smulders, Guido de Wert

    出版 2012
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  2. 2
    Chromosomal mosaicism in human preimplantation embryos: a systematic review

    Chromosomal mosaicism in human preimplantation embryos: a systematic review 由 Jannie van Echten‐Arends, Sebastiaan Mastenbroek, Birgit Sikkema‐Raddatz, Johanna C. Korevaar, Maas Jan Heineman, Fulco van der Veen, Sjoerd Repping

    出版 2011
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  3. 3
    Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation

    Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation 由 Gerbrig Berger, Eva van den Berg, Birgit Sikkema‐Raddatz, Kristin M. Abbott, Richard J. Sinke, Laura Bungener, André B. Mulder, Edo Vellenga

    出版 2016
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  4. 4
    The introduction of arrays in prenatal diagnosis: A special challenge

    The introduction of arrays in prenatal diagnosis: A special challenge 由 Annalisa Vetro, Katelijne Bouman, Ros Hastings, Dominic McMullan, Joris Vermeesch, Konstantin Miller, Birgit Sikkema‐Raddatz, David H. Ledbetter, Orsetta Zuffardi, Conny M.A. van Ravenswaaij‐Arts

    出版 2012
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  5. 5
    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome 由 Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino, Erica H. Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema‐Raddatz, Stephen W. Scherer, Christian R. Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

    出版 2009
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  6. 6
    Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

    Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead 由 Abigail Veldman, Mensiena B. G. Kiewiet, M. Rebecca Heiner‐Fokkema, Marcel Nelen, Richard J. Sinke, Birgit Sikkema‐Raddatz, Els Voorhoeve, Dineke Westra, Martijn E.T. Dollé, Peter C. J. I. Schielen, Francjan J. van Spronsen

    出版 2022
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  7. 7
    CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

    CoNVaDING: Single Exon Variation Detection in Targeted NGS Data 由 Lennart Johansson, Freerk van Dijk, Eddy N. de Boer, Krista K. van Dijk-Bos, Jan D.H. Jongbloed, Annemieke H. van der Hout, Helga Westers, Richard J. Sinke, Morris A. Swertz, Rolf H. Sijmons, Birgit Sikkema‐Raddatz

    出版 2016
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  8. 8
    Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

    Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics 由 Birgit Sikkema‐Raddatz, Lennart Johansson, Eddy N. de Boer, Rowida Almomani, Ludolf G. Boven, Maarten P. van den Berg, Karin Y. van Spaendonck‐Zwarts, J. Peter van Tintelen, Rolf H. Sijmons, Jan D.H. Jongbloed, Richard J. Sinke

    出版 2013
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  9. 9
    GAVIN: Gene-Aware Variant INterpretation for medical sequencing

    GAVIN: Gene-Aware Variant INterpretation for medical sequencing 由 K. Joeri van der Velde, Eddy N. de Boer, Cleo C. van Diemen, Birgit Sikkema‐Raddatz, Kristin M. Abbott, Alain Knopperts, Lude Franke, Rolf H. Sijmons, Tom J. de Koning, Cisca Wijmenga, Richard J. Sinke, Morris A. Swertz

    出版 2017
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  10. 10
    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
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  11. 11
    A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

    A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound 由 Nicole Corsten‐Janssen, Katelijne Bouman, Janouk C. D. Diphoorn, Arjen J. Scheper, R. Kinds, Julia el Mecky, Hanna Breet, Joanne Verheij, Ron F. Suijkerbuijk, L. Duin, G. T. R. Manten, Irene M. van Langen, Rolf H. Sijmons, Birgit Sikkema‐Raddatz, Helga Westers, Cleo C. van Diemen

    出版 2020
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  12. 12
    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
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  13. 13
    <i>TBX4</i>mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

    <i>TBX4</i>mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension 由 Wilhelmina S. Kerstjens‐Frederikse, Ernie M.H.F. Bongers, Marcus T.R. Roofthooft, Edward M. Leter, Johannes M. Douwes, Arie P.J. van Dijk, Anton Vonk Noordegraaf, Krista K. van Dijk-Bos, Lies H. Hoefsloot, Elke S. Hoendermis, Gilles Thomas, Birgit Sikkema‐Raddatz, Robert M.W. Hofstra, Rolf M.F. Berger

    出版 2013
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  14. 14
    In Vitro Fertilization with Preimplantation Genetic Screening

    In Vitro Fertilization with Preimplantation Genetic Screening 由 Sebastiaan Mastenbroek, Moniek Twisk, Jannie van Echten‐Arends, Birgit Sikkema‐Raddatz, Johanna C. Korevaar, Harold R Verhoeve, N.E.A. Vogel, Eus G.J.M. Arts, Jan W. A. de Vries, Patrick M. Bossuyt, Charles H.C.M. Buys, Maas Jan Heineman, Sjoerd Repping, Fulco van der Veen

    出版 2007
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  15. 15
    Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

    Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly 由 Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart Johansson, Anthonie J. van Essen, Johanna B. G. M. Verheij, Hermine E. Veenstra‐Knol, E. Redeker, Marcel M.A.M. Mannens, Morris A. Swertz, Behrooz Z. Alizadeh, Conny M.A. van Ravenswaaij‐Arts, Richard J. Sinke, Birgit Sikkema‐Raddatz

    出版 2015
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  16. 16
    CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

    CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations 由 Shuang� Li, K. Joeri van der Velde, Dick de Ridder, Aalt D. J. van Dijk, Dimitrios Soudis, Leslie R. Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Mariëlle van Gijn, Kristin M. Abbott, Birgit Sikkema‐Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Richard J. Sinke, Morris A. Swertz

    出版 2020
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  17. 17
    Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders

    Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders 由 Eddy N. de Boer, Arjen J. Scheper, Dennis Hendriksen, Bart Charbon, Gerben van der Vries, Annelies M. ten Berge, P.M. Grootscholten, Henny H. Lemmink, Jan D.H. Jongbloed, Laura Bosscher, N. Knoers, Morris A. Swertz, Birgit Sikkema‐Raddatz, Dorieke J. Dijkstra, Lennart Johansson, Cleo C. van Diemen

    出版 2025
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  18. 18
    Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

    Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies 由 Beata Nowakowska, Nicole de Leeuw, Claudia AL Ruivenkamp, Birgit Sikkema‐Raddatz, John A. Crolla, Ronald Thoelen, Marion Koopmans, Nicolette den Hollander, Arie van Haeringen, Anne-Marie Van Der Kevie-Kersemaekers, Rolph Pfundt, Hanneke Mieloo, Ton van Essen, Bert B A de Vries, Andrew Green, William Reardon, Jean‐Pierre Fryns, Joris Vermeesch

    出版 2011
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  19. 19
    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 由 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

    出版 2024
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  20. 20
    Rapid Targeted Genomics in Critically Ill Newborns

    Rapid Targeted Genomics in Critically Ill Newborns 由 Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Klasien A. Bergman, Tom J. de Koning, Birgit Sikkema‐Raddatz, Joeri K. van der Velde, Kristin M. Abbott, Johanna C. Herkert, Katharina Löhner, Patrick Rump, Martine T. Meems-Veldhuis, Pieter B. Neerincx, Jan D.H. Jongbloed, Conny M.A. van Ravenswaaij‐Arts, Morris A. Swertz, Richard J. Sinke, Irene M. van Langen, Cisca Wijmenga

    出版 2017
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