检索结果 - Ruben van’t Slot

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  1. 1
    Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

    Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions 由 Hannelie M. Engbers, Jasper J. van der Smagt, Ruben van ‘t Slot, Joris Vermeesch, Ron Hochstenbach, Martin Poot

    出版 2008
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  2. 2
    Evidence in favor of the contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysms

    Evidence in favor of the contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysms 由 Ynte M. Ruigrok, Gabriël J.E. Rinkel, Ruben van't Slot, Marcel G. M. Wolfs, Tang Song, Cisca Wijmenga

    出版 2006
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  3. 3
    Survival of autoreactive T lymphocytes by microRNA-mediated regulation of apoptosis through TRAIL and Fas in type 1 diabetes

    Survival of autoreactive T lymphocytes by microRNA-mediated regulation of apoptosis through TRAIL and Fas in type 1 diabetes 由 Vincent M. de Jong, Arno R. van der Slik, Sandra Laban, Ruben van ‘t Slot, Bobby P. C. Koeleman, Arnaud Zaldumbide, Bart O. Roep

    出版 2016
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  4. 4
    Genetic Susceptibility to Respiratory Syncytial Virus Bronchiolitis in Preterm Children Is Associated With Airway Remodeling Genes and Innate Immune Genes

    Genetic Susceptibility to Respiratory Syncytial Virus Bronchiolitis in Preterm Children Is Associated With Airway Remodeling Genes and Innate Immune Genes 由 Christine L. E. Siezen, Louis Bont, Hennie M. Hodemaekers, Marieke Ermers, G. Doornbos, Ruben van’t Slot, Cisca Wijmenga, Hans C. van Houwelingen, Jan L. L. Kimpen, Tjeerd G. Kimman, Barbara Hoebee, Riny Janssen

    出版 2009
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  5. 5
    A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q

    A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q 由 S C Bakker, Emma M. van der Meulen, Jan K. Buitelaar, Lodewijk A. Sandkuijl, David L. Pauls, A.J. Monsuur, Ruben van 't Slot, Ruud B. Minderaa, W. Boudewijn Gunning, P. Pearson, Richard J. Sinke

    出版 2003
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  6. 6
    Genetic Susceptibility to Respiratory Syncytial Virus Bronchiolitis Is Predominantly Associated with Innate Immune Genes

    Genetic Susceptibility to Respiratory Syncytial Virus Bronchiolitis Is Predominantly Associated with Innate Immune Genes 由 Riny Janssen, Louis Bont, Christine L. E. Siezen, Hennie M. Hodemaekers, Marieke Ermers, G. Doornbos, Ruben van ‘t Slot, Cisca Wijmenga, Jelle J. Goeman, Jan L. L. Kimpen, Hans C. van Houwelingen, Tjeerd G. Kimman, Barbara Hoebee

    出版 2007
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  7. 7
    Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

    Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy 由 Carolien G. F. de Kovel, Miriam H. Meisler, Eva H. Brilstra, Frédérique M.C. van Berkestijn, Ruben van ‘t Slot, Stef van Lieshout, Isaäc J. Nijman, Janelle E. O’Brien, Michael F. Hammer, Mark Estación, Stephen G. Waxman, Sulayman D. Dib‐Hajj, Bobby P.C. Koeleman

    出版 2014
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  8. 8
    Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

    Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer 由 Wigard P. Kloosterman, Marlous Hoogstraat, Oscar Paling, Masoumeh Tavakoli‐Yaraki, Ivo Renkens, Joost S.P. Vermaat, Markus J. van Roosmalen, Stef van Lieshout, Isaäc J. Nijman, Wijnand Roessingh, Ruben van ‘t Slot, José van de Belt, Victor Guryev, Marco J. Koudijs, Emile E. Voest, Edwin Cuppen

    出版 2011
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  9. 9
    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism 由 Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske H. Houben, Ruben van ‘t Slot, Maretha Jonge, Wouter Staal, Frits A. Beemer, Jacob Vorstman, J. Peter H. Burbach, Hans Kristian Ploos van Amstel, Ron Hochstenbach, Eva H. Brilstra, Martin Poot

    出版 2011
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  10. 10
    Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP

    Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP 由 Alexandra Zhernakova, Eleonora A. Festen, Lude Franke, Gosia Trynka, Cleo C. van Diemen, Alienke J. Monsuur, Marianna R. Bevova, Rian M. Nijmeijer, Ruben van ‘t Slot, Roel Heijmans, H. Marike Boezen, David A. van Heel, Adriaan A. van Bodegraven, Pieter Stokkers, Cisca Wijmenga, J. Bart A. Crusius, Rinse K. Weersma

    出版 2008
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  11. 11
    Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer

    Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer 由 Marlous Hoogstraat, Mirjam S. de Pagter, Geert A. Cirkel, Markus J. van Roosmalen, Timothy T. Harkins, Karen Duran, Jennifer Kreeftmeijer, Ivo Renkens, Petronella O. Witteveen, Clarence Lee, Isaäc J. Nijman, Tanisha Guy, Ruben van ‘t Slot, Trudy N. Jonges, Martijn P. Lolkema, Marco J. Koudijs, Ronald P. Zweemer, Emile E. Voest, Edwin Cuppen, Wigard P. Kloosterman

    出版 2013
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  12. 12
    Mosaicism of de novo pathogenic <i><scp>SCN</scp>1A</i> variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

    Mosaicism of de novo pathogenic <i><scp>SCN</scp>1A</i> variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes 由 Iris Lange, Marco J. Koudijs, Ruben van ‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Lisette J. J. M. van Gemert, Flip Mulder, Ellen C. Carbo, Marjan J. A. van Kempen, Nienke E. Verbeek, Isaäc J. Nijman, Robert F. Ernst, Sanne M. C. Savelberg, Nine Knoers, Eva H. Brilstra, Bobby P.C. Koeleman

    出版 2018
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  13. 13
    A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

    A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder 由 Bert van der Zwaag, Wouter Staal, Ron Hochstenbach, Martin Poot, Henk A. Spierenburg, Maretha Jonge, Nienke E. Verbeek, Ruben van ‘t Slot, Michael A. van Es, Frank J. T. Staal, Christine M. Freitag, Jacobine E. Buizer‐Voskamp, Marcel Nelen, Leonard H. van den Berg, Hans Kristian Ploos van Amstel, Hermán van Engeland, J. Peter H. Burbach

    出版 2009
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  14. 14
    Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

    Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia 由 Katia Hardies, Carolien G. F. de Kovel, Sarah Weckhuysen, Bob Asselbergh, Thomas Geuens, Tine Deconinck, Abdelkrim Azmi, Patrick May, Eva H. Brilstra, Felicitas Becker, Nina Barišić, Dana Craiu, Kees P. J. Braun, Dennis Lal, Hölger Thiele, Julian Schubert, Yvonne G. Weber, Ruben van ‘t Slot, Peter Nürnberg, Rudi Balling, Vincent Timmerman, Holger Lerche, Stuart Maudsley, Ingo Helbig, Arvid Suls, Bobby P. C. Koeleman

    出版 2015
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  15. 15
    Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

    Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients 由 Carolien G. F. de Kovel, Eva H. Brilstra, Marjan J. A. van Kempen, Ruben van’t Slot, Isaäc J. Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies, Ingo Helbig, Rik Hendrickx, Moine Kanaan, Uri Kramer, Anna‐Elina Lehesjoki, Johannes R. Lemke, Carla Marini, Davide Mei, Rikke S. Møller, Manuela Pendziwiat, Hannah Stamberger, Arvid Suls, Sarah Weckhuysen, Bobby P.C. Koeleman

    出版 2016
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  16. 16
    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism 由 Bert van der Zwaag, Lude Franke, Martin Poot, Ron Hochstenbach, Henk A. Spierenburg, Jacob Vorstman, Emma van Daalen, Maretha Jonge, Nienke E. Verbeek, Eva H. Brilstra, Ruben van ‘t Slot, Roel A. Ophoff, Michael A. van Es, Hylke M. Blauw, Jan H. Veldink, Jacobine E. Buizer‐Voskamp, Frits A. Beemer, Leonard H. van den Berg, Cisca Wijmenga, Hans Kristian Ploos van Amstel, Hermán van Engeland, J. Peter H. Burbach, Wouter Staal

    出版 2009
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  17. 17
    A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy

    A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy 由 Jonas J. W. Kuiper, Jessica van Setten, Stephan Ripke, Ruben van ‘t Slot, Flip Mulder, Tom Missotten, G. S. Baarsma, Laurent C. Francioli, Sara L. Pulit, Carolien G. F. de Kovel, Ninette ten Dam‐van Loon, Anneke I. den Hollander, Paulien Huis in het Veld, Carel B. Hoyng, Miguel Cordero‐Coma, Javier Martı́n, Víctor Llorenç, Bharti Arya, Dhanes Thomas, Steven C. Bakker, Roel A. Ophoff, Aniki Rothová, Paul I. W. de Bakker, Tuna Mutis, Bobby P. C. Koeleman

    出版 2014
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  18. 18
    De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy

    De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy 由 Iris Lange, Katherine L. Helbig, Sarah Weckhuysen, Rikke S. Møller, Milen Velinov, Natalia Dolzhanskaya, Eric D. Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T. Myers, Wim Van Paesschen, Pasquale Striano, Koen L.I. van Gassen, Marjan van Kempen, Carolien G. F. de Kovel, Juliette Piard, Berge A. Minassian, Marjan M. Nezarati, André Luiz Santos Pessoa, Aurélia Jacquette, Bridget H. Maher, Simona Balestrini, Sanjay M. Sisodiya, Marie Thérèse Abi Warde, Anne de Saint Martin, Jamel Chelly, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H. Brilstra, Bobby P. C. Koeleman

    出版 2016
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  19. 19
    A large genome scan for rare CNVs in amyotrophic lateral sclerosis

    A large genome scan for rare CNVs in amyotrophic lateral sclerosis 由 Hylke M. Blauw, Ammar Al‐Chalabi, Peter M. Andersen, Paul W.J. van Vught, Frank P. Diekstra, Michael A. van Es, Christiaan G. J. Saris, Ewout J. N. Groen, Wouter van Rheenen, Max Koppers, Ruben van't Slot, Eric Strengman, Karol Estrada, Fernando Rivadeneira, Albert Hofman, André G. Uitterlinden, Lambertus A. Kiemeney, Sita H. Vermeulen, Anna Birve, Stefan Waibel, Thomas Meyer, Simon Cronin, Russell L. McLaughlin, Orla Hardiman, Peter C. Sapp, Martin D. Tobin, Louise V. Wain, Barbara Tomik, Agnieszka Słowik, Robin Lemmens, Dan Rujescu, Claudia Schulte, Thomas Gasser, Robert H. Brown, John E. Landers, Wim Robberecht, Albert C. Ludolph, Roel A. Ophoff, Jan H. Veldink, Leonard H. van den Berg

    出版 2010
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  20. 20
    Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up

    Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up 由 José-Ezequiel Martín, Jasper Broen, F. David Carmona, María Teruel, Carmen Pilar Simeón‐Aznar, Madelon C Vonk, Ruben van ‘t Slot, Luis Rodríguez‐Rodríguez, Esther Vicente, V Fonollosa, Norberto Ortego‐Centeno, Miguel Á. González‐Gay, Francisco José García Hernández, Paloma García de la Peña, Patrícia Carreira, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Piet L. C. M. van Riel, Alexander Kreuter, Torsten Witte, G. Riemekasten, Paolo Airò, R Scorza, Claudio Lunardi, Nicolas Hunzelmann, Jörg H. W. Distler, Lorenzo Beretta, Jacob M. van Laar, Meng May Chee, Jane Worthington, Ariane L. Herrick, Christopher P. Denton, Filemon K. Tan, Frank C. Arnett, Shervin Assassi, Carmen Fonseca, Maureen D. Mayes, Timothy R. D. J. Radstake, Bobby P. C. Koeleman, Javier Martı́n

    出版 2012
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