Bilaketaren emaitzak - Lut Van Laer

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  1. 1
    Genetics of Thoracic Aortic Aneurysm

    Genetics of Thoracic Aortic Aneurysm nork Elisabeth Gillis, Lut Van Laer, Bart Loeys

    Argitaratua 2013
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  2. 2
    Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

    Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery nork Aline Verstraeten, Maaike Alaerts, Lut Van Laer, Bart Loeys

    Argitaratua 2016
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  3. 3
    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 nork Josephina Meester, Aline Verstraeten, Dorien Schepers, Maaike Alaerts, Lut Van Laer, Bart Loeys

    Argitaratua 2017
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  4. 4
    Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease

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

    Argitaratua 2018
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  5. 5
    VariantDB: a flexible annotation and filtering portal for next generation sequencing data

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

    Argitaratua 2014
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  6. 6
    Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

    Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-... nork Fransiska Malfait, Delfien Syx, Philip Vlummens, Sofie Symoens, Sheela Nampoothiri, Trinh Hermanns‐Lê, Lut Van Laer, Anne De Paepe

    Argitaratua 2010
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  7. 7
    The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

    The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein nork Ken Op de Beeck, Guy Van Camp, Sofie Thys, Nathalie Cools, Isabelle Callebaut, Karen Vrijens, Luc Van Nassauw, Viggo Van Tendeloo, Jean‐Pierre Timmermans, Lut Van Laer

    Argitaratua 2011
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  8. 8
    Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

    Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum nork Christopher Brampton, Yukiko Yamaguchi, Olivier Vanakker, Lut Van Laer, Li-Hsieh Chen, Manoj Thakore, Anne De Paepe, Viola Pomozi, Pál Szabó, Ludovic Martin, András Váradi, Olivier Le Saux

    Argitaratua 2011
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  9. 9
    A genome-wide association study for age-related hearing impairment in the Saami

    A genome-wide association study for age-related hearing impairment in the Saami nork Lut Van Laer, Jeroen R. Huyghe, Samuli Hannula, Els Van Eyken, Dietrich Stephan, Elina Mäki‐Torkko, Pekka Aikio, Erik Fransén, Alana Lysholm-Bernacchi, Martti Sorri, Matthew J. Huentelman, Guy Van Camp

    Argitaratua 2010
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  10. 10
    Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

    Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations nork Annelies Konings, Lut Van Laer, Sophie Michel, Małgorzata Pawelczyk, Per‐Inge Carlsson, Marie-Louise Bondeson, Elżbieta Rajkowska, Adam Dudarewicz, Ann Vandevelde, Erik Fransén, Jeroen R. Huyghe, Erik Borg, Mariola Śliwińska‐Kowalska, Guy Van Camp

    Argitaratua 2008
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  11. 11
    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 nork 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

    Argitaratua 2015
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  12. 12
    Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

    Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes nork Machteld Baetens, Lut Van Laer, Kim De Leeneer, Jan Hellemans, Joachim De Schrijver, Hendrik Van de Voorde, Marjolijn Renard, Hal Dietz, Ronald V. Lacro, Björn Menten, Wim Van Criekinge, Julie De Backer, Anne De Paepe, Bart Loeys, Paul Coucke

    Argitaratua 2011
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  13. 13
    Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene

    Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene nork Kristien Verhoeven, Robbert JH Ensink, Valeria Tiranti, P.L.M. Huygen, David Johnson, Isabelle Schatteman, Lut Van Laer, Margriet Verstreken, Paul Van de Heyning, Nathan Fischel‐Ghodsian, Massimo Zeviani, Cor W. R. J. Cremers, Patrick J. Willems, Guy Van Camp

    Argitaratua 1999
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  14. 14
    Mesenchymal state of intimal cells may explain higher propensity to ascending aortic aneurysm in bicuspid aortic valves

    Mesenchymal state of intimal cells may explain higher propensity to ascending aortic aneurysm in bicuspid aortic valves nork Shohreh Maleki, Sanela Kjellqvist, Valentina Paloschi, Joëlle Magné, Rui M. Branca, Lei Du, Kjell Hultenby, Johan Petrini, Jonas Fuxe, Harry C. Dietz, Bart Loeys, Lut Van Laer, Andrew S. McCallion, Luc Mertens, Seema Mital, Salah A. Mohamed, Grégor Andelfinger, Janne Lehtiö, Anders Franco‐Cereceda, Per Eriksson, Hanna M. Björck

    Argitaratua 2016
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  15. 15
    Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

    Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F nork Kumar N. Alagramam, Huijun Yuan, Markus H. Kuehn, Crystal L. Murcia, Sigrid Wayne, C.R. Srikumari Srisailpathy, R. Brian Lowry, R. Knaus, Lut Van Laer, François Bernier, Stuart Schwartz, Charles Lee, Cynthia C. Morton, Robert F. Mullins, Arabandi Ramesh, Guy Van Camp, Gregory S. Hagemen, Richard P. Woychik, Richard J. Smith

    Argitaratua 2001
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  16. 16
    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 nork 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

    Argitaratua 2019
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  17. 17
    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 nork 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

    Argitaratua 2016
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  18. 18
    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection nork Marjolijn Renard, Catherine Francis, Rajarshi Ghosh, Alan L. Scott, P. Dane Witmer, Lesley C. Adès, Grégor Andelfinger, Pauline Arnaud, Cathérine Boileau, Bert Callewaert, Dongchuan Guo, Nadine Hanna, Mark E. Lindsay, Hiroko Morisaki, Takayuki Morisaki, Nicholas Pachter, Leema Robert, Lut Van Laer, Harry C. Dietz, Bart Loeys, Dianna M. Milewicz, Julie De Backer

    Argitaratua 2018
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  19. 19
    Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

    Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26 nork Yoshihito Kishita, Aleksandra Pajak, Nikhita Bolar, C Marobbio, Camilla Maffezzini, Daniela Valeria Miniero, Magnus Monné, Masakazu Kohda, Henrik Stranneheim, Kei Murayama, K Naess, Nicole Lesko, Helene Bruhn, Arnaud Mourier, Rolf Wibom, Inger Nennesmo, Ann Jespers, Paul Govaert, Akira Ohtake, Lut Van Laer, Bart Loeys, Christoph Freyer, Ferdinando Palmieri, Anna Wredenberg, Yasushi Okazaki, Anna Wedell

    Argitaratua 2015
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  20. 20
    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome nork 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

    Argitaratua 2015
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