檢索結果 - Edwin Reyniers

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  1. 1
    CNV-WebStore: Online CNV Analysis, Storage and Interpretation

    CNV-WebStore: Online CNV Analysis, Storage and Interpretation 由 Geert Vandeweyer, Edwin Reyniers, Wim Wuyts, Liesbeth Rooms, R. Frank Kooy

    出版 2011
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  2. 2
    Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)

    Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) 由 Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, Stefaan Scheers, J. Wauters, Berten Ceulemans, Jenneke van den Ende, Yolande van Bever, R. Frank Kooy

    出版 2003
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    Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice

    Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice 由 Debby Van Dam, Rudi D’Hooge, Ehud Hauben, Edwin Reyniers, Ilse Gantois, Cathy Bakker, Ben A. Oostra, R. Frank Kooy, Peter Paul De Deyn

    出版 2000
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  4. 4
    Familial hypertryptasemia with associated mast cell activation syndrome

    Familial hypertryptasemia with associated mast cell activation syndrome 由 Vito Sabato, Els Van de Vijver, Margo M. Hagendorens, Inge Vrelust, Edwin Reyniers, Erik Fransén, Chris H. Bridts, Luc S. De Clerck, Geert Mortier, Peter Valent, Didier G. Ebo

    出版 2014
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  5. 5
    Alternative splicing in the fragile X gene <i>FMR1</i>

    Alternative splicing in the fragile X gene <i>FMR1</i> 由 Annemieke J.M.H. Verkerk, Esther de Graaff, Kristel De Boulle, Evan E. Eichler, David Konecki, Edwin Reyniers, Antonella Manca, Annemarie Poustka, Patrick J. Willems, David L. Nelson, B. A. Oostra

    出版 1993
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  6. 6
    FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

    FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 由 Sofie Metsu, Liesbeth Rooms, Jacqueline K. Rainger, Martin S. Taylor, Hemant Bengani, David I. Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey N. Thompson, Eric Haan, Jozef Gécz, David Fitzpatrick, R. Frank Kooy

    出版 2014
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  7. 7
    Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

    Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections 由 Josephina Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W. Markham, Julie Vogt, Julie Richer, Luc Beauchesne, Sheila Unger, Andrea Superti‐Furga, Milan Prša, Rami Dhillon, Edwin Reyniers, Harry C. Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart Loeys

    出版 2016
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  8. 8
    Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

    Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature 由 Salima El Chehadeh, Wilhelmina S. Kerstjens‐Frederikse, Julien Thévenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean‐Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P. Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot‐Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, R. Frank Kooy, Miroslava Hančárová, Markéta Havlovicová, Darina Prchalová, Zdeněk Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S. Klein Wassink‐Ruiter, Laurence Faivre

    出版 2016
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