Showing 1 - 17 results of 17 for search 'Robert M.W. Hofstra', query time: 0.06s
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Mutations in SCG10 are not involved in Hirschsprung disease. by Maria M M Alves, Jan Osinga, Joke B G M Verheij, Marco Metzger, Bart J L Eggen, Robert M W Hofstra
Published 2010-01-01
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Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. by Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra, Hein Te Riele
Published 2017-05-01
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Unbiased characterization of the larval zebrafish enteric nervous system at a single cell transcriptomic level by Laura E. Kuil, Naomi J.M. Kakiailatu, Jonathan D. Windster, Eric Bindels, Joke T.M. Zink, Gaby van der Zee, Robert M.W. Hofstra, Iain T. Shepherd, Veerle Melotte, Maria M. Alves
Published 2023-07-01
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Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism by Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmee Oussoren, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M. W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter
Published 2020-12-01
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Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. by Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Arnold Munnich, Nadège Bondurand, Aravinda Chakravarti, Françoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet
Published 2013-01-01
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Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development by Maria E. Baardman, Mathijs V. Zwier, Lambertus J. Wisse, Adriana C. Gittenberger-de Groot, Wilhelmina S. Kerstjens-Frederikse, Robert M. W. Hofstra, Angelika Jurdzinski, Beerend P. Hierck, Monique R. M. Jongbloed, Rolf M. F. Berger, Torsten Plösch, Marco C. DeRuiter
Published 2016-04-01
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TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction by Almira Zada, Laura E. Kuil, Bianca M. de Graaf, Naomi Kakiailatu, Jonathan D. Windster, Jonathan D. Windster, Alice S. Brooks, Marjon van Slegtenhorst, Barbara de Koning, René M. H. Wijnen, Veerle Melotte, Veerle Melotte, Robert M. W. Hofstra, Erwin Brosens, Maria M. Alves
Published 2022-07-01
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A new perspective on transcriptional system regulation (TSR): towards TSR profiling. by Rudolf S N Fehrmann, Hendrik J M de Jonge, Arja Ter Elst, André de Vries, Anne G P Crijns, Alida C Weidenaar, Frans Gerbens, Steven de Jong, Ate G J van der Zee, Elisabeth G E de Vries, Willem A Kamps, Robert M W Hofstra, Gerard J Te Meerman, Eveline S J M de Bont
Published 2008-02-01
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The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model by Katherine C. MacKenzie, Rhiana Garritsen, Rajendra K. Chauhan, Yunia Sribudiani, Bianca M. de Graaf, Tim Rugenbrink, Rutger Brouwer, Wilfred F. J. van Ijcken, Ivo de Blaauw, Alice S. Brooks, Cornelius E. J. Sloots, Conny J. H. M. Meeuwsen, René M. Wijnen, Donald F. Newgreen, Alan J. Burns, Robert M. W. Hofstra, Maria M. Alves, Erwin Brosens
Published 2021-11-01
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Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. by Laura E Kuil, Katherine C MacKenzie, Clara S Tang, Jonathan D Windster, Thuy Linh Le, Anwarul Karim, Bianca M de Graaf, Robert van der Helm, Yolande van Bever, Cornelius E J Sloots, Conny Meeussen, Dick Tibboel, Annelies de Klein, René M H Wijnen, Jeanne Amiel, Stanislas Lyonnet, Maria-Mercè Garcia-Barcelo, Paul K H Tam, Maria M Alves, Alice S Brooks, Robert M W Hofstra, Erwin Brosens
Published 2021-08-01
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Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human by Jean Marie Delalande, Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attié-Bitach, Tania Attié-Bitach, Tania Attié-Bitach, Stanislas Lyonnet, Stanislas Lyonnet, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar, Nikhil Thapar, Alan J. Burns, Alan J. Burns, Alan J. Burns
Published 2022-04-01
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TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human by Jean Marie Delalande, Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attié-Bitach, Tania Attié-Bitach, Tania Attié-Bitach, Stanislas Lyonnet, Stanislas Lyonnet, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar, Nikhil Thapar, Alan J. Burns, Alan J. Burns, Alan J. Burns
Published 2021-12-01
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Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. by Rudolf S N Fehrmann, Ritsert C Jansen, Jan H Veldink, Harm-Jan Westra, Danny Arends, Marc Jan Bonder, Jingyuan Fu, Patrick Deelen, Harry J M Groen, Asia Smolonska, Rinse K Weersma, Robert M W Hofstra, Wim A Buurman, Sander Rensen, Marcel G M Wolfs, Mathieu Platteel, Alexandra Zhernakova, Clara C Elbers, Eleanora M Festen, Gosia Trynka, Marten H Hofker, Christiaan G J Saris, Roel A Ophoff, Leonard H van den Berg, David A van Heel, Cisca Wijmenga, Gerard J Te Meerman, Lude Franke
Published 2011-08-01
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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. by Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Erwin Brosens, Paul M A Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E J Sloots, Annelies de Klein, Alice S Brooks, Robert M W Hofstra, Sophie A C Holsink, Loes F M van der Zanden, Tessel E Galesloot, Paul Kwong-Hang Tam, Marloes Steehouwer, Rocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A Kiemeney, Maria-Mercè Garcia-Barceló, Ivo de Blaauw, Han G Brunner, Nel Roeleveld, Iris A L M van Rooij
Published 2019-01-01
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