תוצאות חיפוש - Irene M. Janssen

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  1. 1
    Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on Statistical Power Analysis

    Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on... מאת Jayne Y. Hehir‐Kwa, M. Egmont‐Petersen, Irene M. Janssen, Dominique Smeets, Ad Geurts van Kessel, Joris A. Veltman

    יצא לאור 2007
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    Artigo
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  2. 2
    Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization

    Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization מאת Margit Schraders, Rolph Pfundt, Huub Straatman, Irene M. Janssen, Ad Geurts van Kessel, Eric Schoenmakers, J. Han van Krieken, Patricia J.T.A. Groenen

    יצא לאור 2004
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    Artigo
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  3. 3
    High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization

    High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization מאת Joris A. Veltman, Eric Schoenmakers, Bert H.J. Eussen, Irene M. Janssen, Gerard Merkx, Brigitte van Cleef, Conny Ma van Ravenswaaij, Han G. Brunner, Dominique Smeets, Ad Geurts van Kessel

    יצא לאור 2002
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    Artigo
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  4. 4
    Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

    Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH מאת Joris A. Veltman, Yvonne M.H. Versleijen‐Jonkers, Inge Nuijten, Irene M. Janssen, Walter van der Vliet, Erik Huys, Joris Vermeesch, Griet Van Buggenhout, Jean‐Pierre Fryns, R.J.C. Admiraal, Paulien A. Terhal, Didier Lacombe, Ad Geurts van Kessel, Dominique Smeets, Eric Schoenmakers, Conny M.A. van Ravenswaaij‐Arts

    יצא לאור 2003
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    Artigo
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  5. 5
    Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

    Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture מאת Lisenka E.L.M. Vissers, Samarth Bhatt, Irene M. Janssen, Zhilian Xia, Seema R. Lalani, Rolph Pfundt, Katarzyna Derwińska, Bert B.A. de Vries, Christian Gilissen, Alexander Hoischen, Monika Nesteruk, Barbara Wiśniowiecka‐Kowalnik, Marta Smyk, Han G. Brunner, Sau Wai Cheung, Ad Geurts van Kessel, Joris A. Veltman, Paweł Stankiewicz

    יצא לאור 2009
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    Artigo
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  6. 6
    Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

    Mutations in a new member of the chromodomain gene family cause CHARGE syndrome מאת Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal, Jane A. Hurst, Bert B.A. de Vries, Irene M. Janssen, W A van der Vliet, Erik Huys, Pieter J. de Jong, Ben C.J. Hamel, Eric Schoenmakers, Han G. Brunner, Joris A. Veltman, Ad Geurts van Kessel

    יצא לאור 2004
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    Artigo
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  7. 7
    Diagnostic Genome Profiling in Mental Retardation

    Diagnostic Genome Profiling in Mental Retardation מאת Bert B.A. de Vries, Rolph Pfundt, M.A.R. Leisink, David A. Koolen, Lisenka E.L.M. Vissers, Irene M. Janssen, Simon V. van Reijmersdal, Willy M. Nillesen, Erik Huys, Nicole de Leeuw, Dominique Smeets, Erik A. Sistermans, Ton Feuth, Conny M.A. van Ravenswaaij‐Arts, Ad Geurts van Kessel, Eric Schoenmakers, Han G. Brunner, Joris A. Veltman

    יצא לאור 2005
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    Artigo
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  8. 8
    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders מאת Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers, Michael Kwint, Irene M. Janssen, Nicole de Leeuw, Helger G. Yntema, Marcel Nelen, Dorien Lugtenberg, Erik‐Jan Kamsteeg, Nienke Wieskamp, Alexander P.A. Stegmann, Servi J.C. Stevens, Richard J. Rodenburg, Annet Simons, Arjen R. Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    יצא לאור 2016
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    Artigo
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  9. 9
    Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

    Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities מאת Lisenka E.L.M. Vissers, Bert B.A. de Vries, Kazutoyo Osoegawa, Irene M. Janssen, Ton Feuth, Chik On Choy, Huub Straatman, Walter van der Vliet, Erik Huys, Anke van Rijk, Dominique Smeets, Conny M.A. van Ravenswaaij‐Arts, Nine V.A.M. Knoers, Ineke van der Burgt, Pieter J. de Jong, Han G. Brunner, Ad Geurts van Kessel, Eric Schoenmakers, Joris A. Veltman

    יצא לאור 2003
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    Artigo
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  10. 10
    Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

    Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice מאת Lisenka E.L.M. Vissers, Timothy C. Cox, A. Murat Maga, Kieran M. Short, Fenny Wiradjaja, Irene M. Janssen, Fernanda Sarquis Jehee, Débora Romeo Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L. Cunningham, Peter J. Anderson, Simeon A. Boyadjiev, Maria Rita Passos‐Bueno, Joris A. Veltman, Ian Smyth, Michael F. Buckley, Tony Roscioli

    יצא לאור 2011
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    Artigo
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  11. 11
    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing מאת Janneke Schuurs-Hoeijmakers, Anneke T. Vulto‐van Silfhout, Lisenka E.L.M. Vissers, Ilse I.G.M. van de Vondervoort, Bregje W.M. van Bon, Joep de Ligt, Christian Gilissen, Jayne Y. Hehir‐Kwa, Kornelia Neveling, Marisol del Rosario, Gausiya Hira, S Reitano, Girolamo Aurelio Vitello, Pinella Failla, Donatella Greco, Marco Fichera, Ornella Galesi, Tjitske Kleefstra, Marie T. Greally, Charlotte W. Ockeloen, Marjolein H. Willemsen, Ernie M.H.F. Bongers, Irene M. Janssen, Rolph Pfundt, Joris A. Veltman, Corrado Romano, Michèl A.A.P. Willemsen, Hans van Bokhoven, Han G. Brunner, Bert B.A. de Vries, Arjan P.M. de Brouwer

    יצא לאור 2013
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    Artigo
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  12. 12
    Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

    Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia מאת Janneke Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg, Salma Ben‐Salem, Susanne T. de Bot, Bonnie Nijhof, Ilse I.G.M. van de Vondervoort, Marinette van der Graaf, Anna Castells‐Nobau, Irene Otte‐Höller, Sascha Vermeer, Amanda Smith, Peter Humphreys, Jeremy Schwartzentruber, Bassam R. Ali, Saeed Al‐Yahyaee, Said Tariq, Thachillath Pramathan, Riad Bayoumi, H.P.H. Kremer, Bart P. van de Warrenburg, Willem M.R. van den Akker, Christian Gilissen, Joris A. Veltman, Irene M. Janssen, Anneke T. Vulto-van Silfhout, Saskia van der Velde-Visser, Dirk Lefeber, Adinda Diekstra, Corrie E. Erasmus, Michèl A.A.P. Willemsen, Lisenka E.L.M. Vissers, Martin Lammens, Hans van Bokhoven, Han G. Brunner, Ron A. Wevers, Annette Schenck, Lihadh Al‐Gazali, Bert B.A. de Vries, Arjan P.M. de Brouwer

    יצא לאור 2012
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    Artigo
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