Hasil Pencarian - Lars T. van der Veken

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  1. 1
    De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

    De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies oleh Shirley Lo-A-Njoe, Lars T. van der Veken, Clementien Vermont, Louise Rafael-Croes, Vincent Keizer, Ron Hochstenbach, Nine Knoers, Mieke M. van Haelst

    Diterbitkan 2016-01-01
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  2. 2
    <em>GMDS</em> Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly

    <em>GMDS</em> Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly oleh Shirley M. Lo-A-Njoe, Eline A. Verberne, Lars T. van der Veken, Eric Arends, J. Peter van Tintelen, Alex V. Postma, Mieke M. van Haelst

    Diterbitkan 2023-07-01
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  3. 3
    Elevated infant mortality rate among Dutch oral cleft cases: a retrospective analysis from 1997 to 2011

    Elevated infant mortality rate among Dutch oral cleft cases: a retrospective analysis from 1997 to 2011 oleh Daan Pieter Frederik Van Nunen, Marie-José H. Van den Boogaard, J. Peter W. eDon Griot, Mike eRüttermann, Lars TJ Van der Veken, Corstiaan eBreugem

    Diterbitkan 2014-12-01
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  4. 4
    Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3′ MECOM

    Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3′ MECOM oleh Lars T. van der Veken, Merel C. Maiburg, Floris Groenendaal, Mariëlle E. van Gijn, Andries C. Bloem, Claudia Erpelinck, Stefan Gröschel, Mathijs A. Sanders, Ruud Delwel, Marc B. Bierings, Arjan Buijs

    Diterbitkan 2018-04-01
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  5. 5
    A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs

    A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs oleh Wouter J. Venema, Sanne Hiddingh, Jorg van Loosdregt, John Bowes, Brunilda Balliu, Joke H. de Boer, Jeannette Ossewaarde-van Norel, Susan D. Thompson, Carl D. Langefeld, Aafke de Ligt, Lars T. van der Veken, Peter H.L. Krijger, Wouter de Laat, Jonas J.W. Kuiper

    Diterbitkan 2024-01-01
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  6. 6
    Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development

    Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development oleh Bas M. Smits, Taila Hartley, Ester Dünnebach, Marije Bartels, Kim M. Boycott, Kirstin D. Kernohan, David A. Dyment, Jacques C. Giltay, Elie Haddad, Olga Jarinova, Joris van Montfrans, Annet van Royen-Kerkhof, Lars T. van der Veken, Moniek de Witte, Stefan Nierkens, Anne Pham-Huy, Helen L. Leavis

    Diterbitkan 2022-10-01
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  7. 7
    ERAP2 Increases the Abundance of a Peptide Submotif Highly Selective for the Birdshot Uveitis-Associated HLA-A29

    ERAP2 Increases the Abundance of a Peptide Submotif Highly Selective for the Birdshot Uveitis-Associated HLA-A29 oleh Wouter J. Venema, Wouter J. Venema, Sanne Hiddingh, Sanne Hiddingh, Joke H. de Boer, Frans H. J. Claas, Arend Mulder, Anneke I. den Hollander, Anneke I. den Hollander, Efstratios Stratikos, Siranush Sarkizova, Siranush Sarkizova, Lars T. van der Veken, George M. C. Janssen, Peter A. van Veelen, Jonas J. W. Kuiper, Jonas J. W. Kuiper

    Diterbitkan 2021-02-01
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  8. 8
    Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

    Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements oleh Sebastiaan van Heesch, Marieke Simonis, Markus J. van Roosmalen, Vamsee Pillalamarri, Harrison Brand, Ewart W. Kuijk, Kim L. de Luca, Nico Lansu, A. Koen Braat, Androniki Menelaou, Wensi Hao, Jeroen Korving, Simone Snijder, Lars T. van der Veken, Ron Hochstenbach, Alida C. Knegt, Karen Duran, Ivo Renkens, Najla Alekozai, Myrthe Jager, Sarah Vergult, Björn Menten, Ewart de Bruijn, Sander Boymans, Elly Ippel, Ellen van Binsbergen, Michael E. Talkowski, Klaske Lichtenbelt, Edwin Cuppen, Wigard P. Kloosterman

    Diterbitkan 2014-12-01
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  9. 9
    Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

    Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Ge... oleh Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, Annet Simons, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Helen L. Leavis, Stefanie S. V. Henriet, Marcel van Deuren, Frank L. van de Veerdonk, Judith Potjewijd, Dagmar Berghuis, Virgil A. S. H. Dalm, Clementien L. Vermont, Annick A. J. M. van de Ven, Annechien J. A. Lambeck, Kristin M. Abbott, P. Martin van Hagen, Godelieve J. de Bree, Taco W. Kuijpers, Geert W. J. Frederix, Mariëlle E. van Gijn, Joris M. van Montfrans, the Genetics First for Primary Immunodeficiency Disorders Consortium, Aerde van, KJ, Altenburg, J, Armbrust W, Barendregt, BH, Berg van den, JM, Bredius, RGM, Buddingh, EP, Burg van der, M, Ellerbroek, PM, Ernst, RF, Fraaij, PLA, Hermans, M, Hoischen, A, Hout van der, AH, Jansen, MHA, Jolink, H, Jonkers, RE, Laar van, JAM, Leeuw de, K, Legger, GE, Leijten, EFA, Limper, M, Lindemans, CA, Oever ten, J, Pieterse, M, Rombach, SM, Rossum van, AMC, Rutgers, A, Santen, GWE, Schölvinck, EH, Simon, A, Stol, K, Vervenne RML

    Diterbitkan 2021-12-01
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