Torthaí cuardaigh - Liesbeth Spruijt

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  1. 1
    Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy

    Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy de réir Neil Howell, Roelof‐Jan Oostra, P. A. Bolhuis, Liesbeth Spruijt, Lorne A. Clarke, David A. Mackey, Gwen Preston, Corinna Herrnstadt

    Foilsithe / Cruthaithe 2003
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  2. 2
    More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

    More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling de réir Aisha S. Sie, Wendy A.G. van Zelst–Stams, Liesbeth Spruijt, Arjen R. Mensenkamp, Marjolijn J. L. Ligtenberg, Han G. Brunner, Judith B. Prins, Nicoline Hoogerbrugge

    Foilsithe / Cruthaithe 2013
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  3. 3
    TINF2 is a haploinsufficient tumor suppressor that limits telomere length

    TINF2 is a haploinsufficient tumor suppressor that limits telomere length de réir Isabelle Schmutz, Arjen R. Mensenkamp, Kaori Takai, Maaike Haadsma, Liesbeth Spruijt, Richarda M. de Voer, Seunga Choo, Franziska K. Lorbeer, Emma J van Grinsven, Dirk Hockemeyer, Marjolijn C.J. Jongmans, Titia de Lange

    Foilsithe / Cruthaithe 2020
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  4. 4
    Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

    Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome de réir Christian Gilissen, Heleen H. Arts, Alexander Hoischen, Liesbeth Spruijt, Dorus A. Mans, Peer Arts, Bart van Lier, Marloes Steehouwer, Jeroen van Reeuwijk, Sarina G. Kant, Ronald Roepman, Nine V.A.M. Knoers, Joris A. Veltman, Han G. Brunner

    Foilsithe / Cruthaithe 2010
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  5. 5
    Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

    Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder de réir Gavin Hudson, Sharon Keers, Patrick Yu Wai Man, Philip G. Griffiths, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Massimo Zeviani, Franco Carrara, Rita Horváth, Veronika Karcagi, Liesbeth Spruijt, I.F.M. de Coo, Hubert J.M. Smeets, Patrick F. Chinnery

    Foilsithe / Cruthaithe 2005
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  6. 6
    Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits

    Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits de réir Chantal R.M. Lammens, Eveline M. A. Bleiker, Neil K. Aaronson, Anja Wagner, Rolf H. Sijmons, Margreet G.E.M. Ausems, A. H. J. T. Vriends, Mariëlle Ruijs, Theo A.M. van Os, Liesbeth Spruijt, E. Gómez, Annemieke Cats, Tanja Nagtegaal, Senno Verhoef

    Foilsithe / Cruthaithe 2010
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  7. 7
    Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences

    Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences de réir Chantal R.M. Lammens, Neil K. Aaronson, Anja Wagner, Rolf H. Sijmons, Margreet G.E.M. Ausems, A. H. J. T. Vriends, Mariëlle Ruijs, Theo A.M. van Os, Liesbeth Spruijt, E. Gómez, Irma Kluijt, Tanja Nagtegaal, Senno Verhoef, Eveline M. A. Bleiker

    Foilsithe / Cruthaithe 2010
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  8. 8
    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome de réir Heleen H. Arts, Ernie M.H.F. Bongers, Dorus A. Mans, Sylvia E. C. van Beersum, M. M. Oud, Emine Bolat, Liesbeth Spruijt, Marlies Cornelissen, Janneke Schuurs-Hoeijmakers, Nicole de Leeuw, Valérie Cormier‐Daire, Han G. Brunner, Nine V.A.M. Knoers, Ronald Roepman

    Foilsithe / Cruthaithe 2011
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  9. 9
    Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

    Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer de réir Richarda M. de Voer, Marc‐Manuel Hahn, Arjen R. Mensenkamp, Alexander Hoischen, Christian Gilissen, Arjen Henkes, Liesbeth Spruijt, Wendy A. van Zelst-Stams, C. Marleen Kets, Eugène T.P. Verwiel, Irıs D. Nagtegaal, Hans K. Schackert, Ad Geurts van Kessel, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Roland P. Kuiper

    Foilsithe / Cruthaithe 2015
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  10. 10
    Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

    Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility de réir Richarda M. de Voer, Marc‐Manuel Hahn, Robbert D.A. Weren, Arjen R. Mensenkamp, Christian Gilissen, Wendy A. van Zelst-Stams, Liesbeth Spruijt, C. Marleen Kets, Junxiao Zhang, Hanka Venselaar, Lilian Vreede, Nil A. Schubert, Marloes Tychon, Ronny Derks, Hans K. Schackert, Ad Geurts van Kessel, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Roland P. Kuiper

    Foilsithe / Cruthaithe 2016
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  11. 11
    Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study

    Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study de réir Karin van der Tuin, Arjen R. Mensenkamp, Carli M.J. Tops, Eleonora P.M. Corssmit, Winand N.M. Dinjens, Anouk N van de Horst-Schrivers, Jeroen C. Jansen, Mirjam M. de Jong, Henricus P. M. Kunst, Benno Küsters, Edward M. Leter, Hans Morreau, B.M.P. van Nesselrooij, Rogier A. Oldenburg, Liesbeth Spruijt, Frederik J. Hes, Henri Timmers

    Foilsithe / Cruthaithe 2017
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  12. 12
    Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

    Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer de réir Richarda M. de Voer, Ad Geurts van Kessel, Robbert D.A. Weren, Marjolijn J. L. Ligtenberg, Dominique Smeets, Lei Fu, Lilian Vreede, Eveline J. Kamping, Eugène T.P. Verwiel, Marc–Manuel Hahn, Maayke Ariaans, Liesbeth Spruijt, Ton van Essen, Gunnar Houge, Hans K. Schackert, Jian Sheng, Hanka Venselaar, Conny M.A. van Ravenswaaij‐Arts, J. Han van Krieken, Nicoline Hoogerbrugge, Roland P. Kuiper

    Foilsithe / Cruthaithe 2013
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  13. 13
    Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

    Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background de réir Gavin Hudson, Valério Carelli, Liesbeth Spruijt, Mike Gerards, Catherine Mowbray, Alessandro Achilli, Angela Pyle, Joanna L. Elson, Neil Howell, Chiara La Morgia, Maria Lucia Valentino, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Alfredo A. Sadun, Solange Rios Salomão, Rubens Belfort, Philip G. Griffiths, Patrick Yu Wai Man, I.F.M. de Coo, Rita Horváth, Massimo Zeviani, Hubert Smeets, Antonio Torroni, Patrick F. Chinnery

    Foilsithe / Cruthaithe 2007
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  14. 14
    NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

    NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability de réir Daniëlle G.M. Bosch, F. Nienke Boonstra, Claudia Gonzaga‐Jauregui, Mafei Xu, Joep de Ligt, Shalini N. Jhangiani, Wojciech Wiszniewski, Donna M. Muzny, Helger G. Yntema, Rolph Pfundt, Lisenka E.L.M. Vissers, Liesbeth Spruijt, Ellen A.W. Blokland, Chun‐An Chen, Richard A. Lewis, Sophia Y. Tsai, Richard A. Gibbs, Ming‐Jer Tsai, James R. Lupski, Huda Y. Zoghbi, Frans P.M. Cremers, Bert B.A. de Vries, Christian P. Schaaf

    Foilsithe / Cruthaithe 2014
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  15. 15
    Lynch Syndrome Caused by Germline <i>PMS2</i> Mutations: Delineating the Cancer Risk

    Lynch Syndrome Caused by Germline <i>PMS2</i> Mutations: Delineating the Cancer Risk de réir Sanne W. ten Broeke, Richard M. Brohet, Carli M.J. Tops, Heleen M. van der Klift, Mary E. Velthuizen, Inge Bernstein, Gabriel Capellà, E. Gómez, Nicoline Hoogerbrugge, Tom G.W. Letteboer, Fred H. Menko, Annika Lindblom, Arjen R. Mensenkamp, Pål Møller, Theo A. van Os, Nils Rahner, Bert J. W. Redeker, Rolf H. Sijmons, Liesbeth Spruijt, Manon Suerink, Yvonne J. Vos, Anja Wagner, Frederik J. Hes, Hans F. A. Vasen, Maartje Nielsen, Juul Wijnen

    Foilsithe / Cruthaithe 2014
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  16. 16
    Role of germline aberrations affecting <i>CTNNA1</i>, <i>MAP3K6</i> and <i>MYD88</i> in gastric cancer susceptibility

    Role of germline aberrations affecting <i>CTNNA1</i>, <i>MAP3K6</i> and <i>MYD88</i> in gastric cancer susceptibility de réir Robbert D.A. Weren, Rachel S. van der Post, Ingrid P. Vogelaar, J. Han van Krieken, Liesbeth Spruijt, Jan Lubiński, Anna Jakubowska, Urszula Teodorczyk, Cora M. Aalfs, Liselotte P. van Hest, Carla Oliveíra, Eveline J. Kamping, Hans K. Schackert, Guglielmina Nadia Ranzani, E. Gómez, Frederik J. Hes, Elke Holinski‐Feder, Maurizio Genuardi, Margreet G.E.M. Ausems, Rolf H. Sijmons, Anja Wagner, Lizet E. van der Kolk, Annemieke Cats, Inga Bjørnevoll, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg

    Foilsithe / Cruthaithe 2018
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  17. 17
    Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

    Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 de réir Celia Zazo Seco, Luciana Serrão de Castro, Josephine W. van Nierop, Matías Morin, Shalini N. Jhangiani, Eva J. J. Verver, Margit Schraders, Nadine Maiwald, Mieke Wesdorp, Hanka Venselaar, Liesbeth Spruijt, Jaap Oostrik, Jeroen Schoots, Jeroen van Reeuwijk, Stefan H. Lelieveld, P.L.M. Huygen, María Insenser, R.J.C. Admiraal, Ronald J. E. Pennings, Lies H. Hoefsloot, Alejandro Arias Vásquez, Joep de Ligt, Helger G. Yntema, Joop H. Jansen, Donna M. Muzny, Gerwin Huls, Michelle M. van Rossum, James R. Lupski, Miguel A. Moreno‐Pelayo, Henricus P. M. Kunst, Hannie Kremer

    Foilsithe / Cruthaithe 2015
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  18. 18
    A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

    A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases de réir Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H. Hoefsloot, Erik‐Jan Kamsteeg, Arjen R. Mensenkamp, Richard J. Rodenburg, Helger G. Yntema, Liesbeth Spruijt, Sascha Vermeer, Tuula Rinne, Koen L.I. van Gassen, Daniëlle Bodmer, Dorien Lugtenberg, Rick de Reuver, Wendy Buijsman, Ronny Derks, Nienke Wieskamp, Bert van den Heuvel, Marjolijn J. L. Ligtenberg, Hannie Kremer, David A. Koolen, Bart P.C. van de Warrenburg, Frans P.M. Cremers, Carlo Marcelis, Jan Smeitink, Saskia B. Wortmann, Wendy A.G. van Zelst–Stams, Joris A. Veltman, Han G. Brunner, Hans Scheffer, Marcel Nelen

    Foilsithe / Cruthaithe 2013
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  19. 19
    Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

    Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing de réir Ingrid P. Vogelaar, Rachel S. van der Post, J. Han van Krieken, Liesbeth Spruijt, Wendy AG van Zelst-Stams, C. Marleen Kets, Jan Lubiński, Anna Jakubowska, Urszula Teodorczyk, Cora M. Aalfs, Liselotte P. van Hest, Hugo Pinheiro, Carla Oliveíra, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Joep de Ligt, Lisenka E.L.M. Vissers, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Jelle J. Goeman, Hans K. Schackert, Guglielmina Nadia Ranzani, Valeria Molinaro, E. Gómez, Frederik J. Hes, Elke Holinski‐Feder, Maurizio Genuardi, Margreet G.E.M. Ausems, Rolf H. Sijmons, Anja Wagner, Lizet E. van der Kolk, Inga Bjørnevoll, Hildegunn Høberg‐Vetti, Ad Geurts van Kessel, Roland P. Kuiper, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge

    Foilsithe / Cruthaithe 2017
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  20. 20
    Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome

    Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome de réir Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Stefan Aretz, Inge Bernstein, Daniel D. Buchanan, Albert de la Chapelle, Gabriel Capellà, Mark Clendenning, Christoph Engel, Steven Gallinger, E. Gómez, Jane C. Figueiredo, Robert W. Haile, Heather L. Hampel, Liselotte van Hest, John L. Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loı̈c Le Marchand, Tom G.W. Letteboer, Mark A. Jenkins, Annika Lindblom, Noralane M. Lindor, Arjen R. Mensenkamp, Pål Møller, Polly A. Newcomb, Theo A.M. van Os, Rachel Pearlman, Marta Pineda, Nils Rahner, E. Redeker, Maran J.W. Olderode-Berends, Christophe Rosty, Hans K. Schackert, Rodney J. Scott, Leigha Senter, Liesbeth Spruijt, Verena Steinke‐Lange, Manon Suerink, Stephen N. Thibodeau, Yvonne J. Vos, Anja Wagner, Ingrid Winship, Frederik J. Hes, Hans F. A. Vasen, Juul Wijnen, Maartje Nielsen, Aung Ko Win

    Foilsithe / Cruthaithe 2018
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