检索结果 - Geert Vandeweyer

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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
    VariantDB: a flexible annotation and filtering portal for next generation sequencing data

    VariantDB: a flexible annotation and filtering portal for next generation sequencing data 由 Geert Vandeweyer, Lut Van Laer, Bart Loeys, Tim Van den Bulcke, R. Frank Kooy

    出版 2014
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  3. 3
    Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

    Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease 由 Dale Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis‐Juan, Courtney E. French, Lucy Raymond, R. Frank Kooy

    出版 2021
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  4. 4
    Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1

    Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1 由 Timon Vandamme, Marc Peeters, Fadime Dogan, Patrick Pauwels, Elvire Van Assche, Matthias Beyens, Geert Mortier, Geert Vandeweyer, Wouter W. de Herder, Guy Van Camp, Leo J. Hofland, Ken Op de Beeck

    出版 2015
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  5. 5
    Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

    Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes 由 Dorien Proost, Geert Vandeweyer, Josephina Meester, Simone Salemink, Marlies Kempers, Christie Ingram, Nils Peeters, Johan Saenen, Christiaan Vrints, Ronald V. Lacro, Dan M. Roden, Wim Wuyts, Harry C. Dietz, Geert Mortier, Bart Loeys, Lut Van Laer

    出版 2015
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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
    DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

    DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System 由 Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J. Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer, Sandra Janssens, Kathleen Claes, Margriet Verstreken, Nicola Strenzke, Friederike Predöhl, Wim Wuyts, Geert Mortier, Maria Bitner‐Glindzicz, Tobias Moser, Paul Coucke, Matthew J. Huentelman, Guy Van Camp

    出版 2016
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  8. 8
    Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

    Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy 由 Ilse Luyckx, Gretchen MacCarrick, Marlies Kempers, Josephina Meester, Céline Geryl, Olivier Rombouts, Nils Peeters, Charlotte Claes, Nele Boeckx, Natzi Sakalihasan, Adeline Jacquinet, Alexander Hoischen, Geert Vandeweyer, Sarah Van Lent, Johan Saenen, Emeline M. Van Craenenbroeck, Janneke Timmermans, Anthonie L. Duijnhouwer, Harry C. Dietz, Lut Van Laer, Bart Loeys, Aline Verstraeten

    出版 2019
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  9. 9
    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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  10. 10
    The transcriptional regulator <i>ADNP</i> links the BAF (SWI/SNF) complexes with autism

    The transcriptional regulator <i>ADNP</i> links the BAF (SWI/SNF) complexes with autism 由 Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Bradley P. Coe, Raphael Bernier, Jennifer Gerdts, Liesbeth Rooms, Jenneke van den Ende, Madhura Bakshi, Meredith Wilson, Ann Nordgren, Laura G. Hendon, Omar Abdul‐Rahman, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, Evan E. Eichler, Nathalie Van der Aa, R. Frank Kooy

    出版 2014
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  11. 11
    Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders

    Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders 由 Zafar Iqbal, Geert Vandeweyer, Monique van der Voet, Ali Muhammad Waryah, Muhammad Yasir Zahoor, Judith A. Besseling, Laura Tomas Roca, Anneke T. Vulto‐van Silfhout, Bonnie Nijhof, Joseph Kramer, Nathalie Van der Aa, Muhammad Ansar, Hilde Peeters, Céline Helsmoortel, Christian Gilissen, Lisenka E.L.M. Vissers, Joris A. Veltman, Arjan P.M. de Brouwer, R. Frank Kooy, Sheikh Riazuddin, Annette Schenck, Hans van Bokhoven, Liesbeth Rooms

    出版 2013
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  12. 12
    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP 由 Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke Schuurs-Hoeijmakers, Carlo Marcelis, Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Helger G. Yntema, Madhura Bakshi, Meredith Wilson, Kali Witherspoon, Helena Malmgren, Ann Nordgren, Göran Annerén, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa

    出版 2014
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  13. 13
    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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  14. 14
    Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

    Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 由 Ilham Ratbi, Kim D. Falkenberg, Manou Sommen, Nada Al-Sheqaih, Soukaina Guaoua, Geert Vandeweyer, Jill Urquhart, Kate Chandler, Simon G. Williams, Neil Roberts, Mustapha El Alloussi, Graeme Black, Sacha Ferdinandusse, Hind Ramdi, Audrey Heimler, Alan Fryer, Sally Ann Lynch, Nicola Cooper, Kai Ren Ong, Claire E. L. Smith, C.F. Inglehearn, Alan J. Mighell, Claire Elcock, James A. Poulter, Marc Tischkowitz, Sally Davies, Abdelaziz Sefiani, Mironov Aa, William G. Newman, Hans R. Waterham, Guy Van Camp

    出版 2015
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  15. 15
    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort 由 Josephina Meester, Maja Sukalo, Kim Schroder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C. Bramswig, Duygu Duman, Brigitte Gilbert‐Dussardier, Muriel Holder‐Espinasse, Peter Itin, Diana Johnson, Shelagh Joss, Hannele Koillinen, F. Ellis McKenzie, Jenny Morton, Heike Nelle, William Reardon, Claudia Roll, Mustafa A. Salih, Ravi Savarirayan, Ingrid Scurr, Miranda Splitt, Elizabeth Thompson, Hannah Titheradge, Colm P. Travers, Lionel Van Maldergem, Margo Whiteford, Dagmar Wieczorek, Geert Vandeweyer, Richard C. Trembath, Lut Van Laer, Bart Loeys, Martin Zenker, Laura Southgate, Wim Wuyts

    出版 2018
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  16. 16
    Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

    Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia 由 Nikhita Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, Christine Van Hemelrijk, Dorien Schepers, Geert Vandeweyer, Alexander Hoischen, Jeroen R. Huyghe, Ann Raes, E Matthys, Emiel Sys, M Azou, Marie‐Claire Gubler, Marleen Praet, Guy Van Camp, Kelsey McFadden, Igor Pediaditakis, Anna Přistoupilová, Kateřina Hodaňová, Petr Vyleťal, Hana Hartmannová, Viktor Stránecký, Helena Hůlková, Veronika Barešová, Ivana Jedličková, Jana Sovová, Aleš Hnı́zda, Kendrah Kidd, Anthony J. Bleyer, Richard Spong, Johan Vande Walle, Geert Mortier, Han G. Brunner, Lut Van Laer, Stanislav Kmoch, Nicholas Katsanis, Bart Loeys

    出版 2016
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  17. 17
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains 由 Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    出版 2017
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  18. 18
    Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

    Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor 由 Elisabeth Gillis, Ajay Kumar, Ilse Luyckx, Christoph Preuß, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A. Gould, Rustam Zhurayev, Zerbino Dd, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Björck, Anders Franco‐Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M.A. Verhagen, Ingrid M.B.H. van de Laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Němčíková, Alice Krebsová, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaı̂tre, Juliette Albuisson, Per Eriksson, Grégor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart Loeys

    出版 2017
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  19. 19
    Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

    Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections 由 Benson Ogunjimi, Shen‐Ying Zhang, Katrine B. Sørensen, Kristian Alsbjerg Skipper, Madalina E. Carter-Timofte, Gaspard Kerner, Stefanie Luecke, Thaneas Prabakaran, Yujia Cai, Josephina Meester, Esther Bartholomeus, Nikhita Bolar, Geert Vandeweyer, Charlotte Claes, Yasmine Sillis, Lazaro Lorenzo, Raffaele A. Fiorenza, Soraya Boucherit, Charlotte Dielman, Steven Heynderickx, George Elias, Andrea Kurotova, Ann Vander Auwera, Lieve Verstraete, Lieven Lagae, Hélène Verhelst, Anna Jansen, José Ramet, Arvid Suls, Evelien Smits, Berten Ceulemans, Lut Van Laer, Genevieve Plat Wilson, Jonas H Kreth, Capucine Pïcard, Horst von Bernuth, Joël Fluss, Stéphane Chabrier, Laurent Abel, Geert Mortier, Sébastien Fribourg, Jacob Giehm Mikkelsen, Jean‐Laurent Casanova, Søren R. Paludan, Trine H. Mogensen

    出版 2017
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  20. 20
    A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

    A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i> 由 Dorien Schepers, Giada Tortora, Hiroko Morisaki, Gretchen MacCarrick, Mark E. Lindsay, David Liang, Sarju Mehta, Jennifer Hague, Judith M.A. Verhagen, Ingrid M.B.H. van de Laar, Marja W. Wessels, Yvonne Detisch, Mieke M. van Haelst, Annette F. Baas, Klaske D. Lichtenbelt, Kees P. J. Braun, Denise van der Linde, Jolien W. Roos‐Hesselink, George McGillivray, Josephina Meester, Isabelle Maystadt, Paul Coucke, Elie El-Khoury, Sandhya Parkash, Birgitte Rode Diness, Lotte Risom, Ingrid Scurr, Yvonne Hilhorst‐Hofstee, Takayuki Morisaki, Julie Richer, Julie Désir, Marlies Kempers, Andrea L. Rideout, Gabrielle Horne, Chris Bennett, Elisa Rahikkala, Geert Vandeweyer, Maaike Alaerts, Aline Verstraeten, Hal Dietz, Lut Van Laer, Bart Loeys

    出版 2018
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