Výsledky vyhledávání - Josephina Meester

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  1. 1
    Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

    Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome Autor Josephina Meester, Aline Verstraeten, Dorien Schepers, Maaike Alaerts, Lut Van Laer, Bart Loeys

    Vydáno 2017
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  2. 2
    Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease

    Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease Autor Josephina Meester, Aline Verstraeten, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Bart Loeys

    Vydáno 2018
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  3. 3
    Biglycan in the Skeleton

    Biglycan in the Skeleton Autor Vardit Kram, Reut Shainer, Priyam Jani, Josephina Meester, Bart Loeys, Marian F. Young

    Vydáno 2020
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  4. 4
    The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection

    The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection Autor Jotte Rodrigues Bento, Josephina Meester, Ilse Luyckx, Silke Peeters, Aline Verstraeten, Bart Loeys

    Vydáno 2022
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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 Autor 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

    Vydáno 2015
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  6. 6
    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 Autor 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

    Vydáno 2019
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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 Autor 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

    Vydáno 2016
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  8. 8
    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome Autor Josephina Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J.A. Beekmans, Nicolette den Hollander, Emilia K. Bijlsma, Appolonia Helderman-van den Enden, Joanne Verheij, Gustavo Glusman, Jared C. Roach, Anna Lehman, Millan S. Patel, Bert de Vries, Claudia Ruivenkamp, Peter Itin, Katrina Prescott, S.D. Clarke, Richard C. Trembath, Martin Zenker, Maja Sukalo, Lut Van Laer, Bart Loeys, Wim Wuyts

    Vydáno 2015
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  9. 9
    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 Autor 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

    Vydáno 2018
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  10. 10
    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 Autor 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

    Vydáno 2017
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  11. 11
    Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

    Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections Autor 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

    Vydáno 2017
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  12. 12
    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> Autor 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

    Vydáno 2018
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  13. 13
    Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

    Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia Autor Aline Verstraeten, Melanie Perik, Anna Baranowska, Josephina Meester, Lotte Van Den Heuvel, Jarl Bastianen, Marlies Kempers, Ingrid P.C. Krapels, Angela H.E.M. Maas, Andrea L. Rideout, Anthony Vandersteen, Glenda Sobey, Diana Johnson, Erik Fransén, Neeti Ghali, Tom R. Webb, Abtehale Al-Hussaini, Peter de Leeuw, P. Delmotte, Marilucy Lopez‐Sublet, Marco Pappaccogli, Muriel Sprynger, Laurent Toubiana, Lut Van Laer, Fleur S. van Dijk, Miikka Vikkula, Nilesh J. Samani, Alexandre Persu, David Adlam, Bart Loeys, Christophe Beauloye, Patrick Chenu, Frank Hammer, Pierre Goffette, Parla Astarci, André Peeters, Robert Verhelst, Patricia Van der Niepen, Frank Van Tussenbroek, Tine De Backer, Sofie Gevaert, Dimitri Hemelsoet, Luc Defreyne, Hilde Heuten, Laetitia Yperzeele, Thijs van der Zijden, Jean‐Philippe Lengelé, Jean-Marie Krzesinski, Peter Verhamme, Thomas Vanassche, Pasquale Scoppettuolo, Jean-Claude Wautrecht, Bojan Jelaković, Živka Dika, Rosa María Bruno, Stefano Taddei, Caterina Romanini, Ilaria Petrucci, Franco Rabbia, Silvia Di Monaco, Gian Paolo Rossi, Silvia Lerco, Pietro Minuz, Giancarlo Mansueto, Sergio De Marchi, Denise Marcon, Bram Kroon, Wilko Spiering, Bert‐Jan H. van den Born, Esteban Poch, Enrique Montagud‐Marrahí, Alícia Molina‐Andújar, Elena Guillén, Marta Burrel, Gregor Wuerzner, Lucia Mazzolai, Giacomo Buso

    Vydáno 2020
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