Showing 1 - 6 results of 6 for search 'Hennie T. Bruggenwirth', query time: 0.03s
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A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. by Remko Hersmus, Yvonne G van der Zwan, Hans Stoop, Pascal Bernard, Rajini Sreenivasan, J Wolter Oosterhuis, Hennie T Brüggenwirth, Suzan de Boer, Stefan White, Katja P Wolffenbuttel, Marielle Alders, Kenneth McElreavy, Stenvert L S Drop, Vincent R Harley, Leendert H J Looijenga
Published 2012-01-01
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Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature by Anna G. W. Rosenberg, Charlotte M. Wellink, Juan M. Tellez Garcia, Karlijn Pellikaan, Denise H. Van Abswoude, Kirsten Davidse, Laura J. C. M. Van Zutven, Hennie T. Brüggenwirth, James L. Resnick, Aart J. Van der Lely, Laura C. G. De Graaff
Published 2022-07-01
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The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous <i>SNURF-SNRPN</i> Variant; Bio-Molecular Analysis and Review of the Literature by Karlijn Pellikaan, Geeske M. van Woerden, Lotte Kleinendorst, Anna G. W. Rosenberg, Bernhard Horsthemke, Christian Grosser, Laura J. C. M. van Zutven, Elisabeth F. C. van Rossum, Aart J. van der Lely, James L. Resnick, Hennie T. Brüggenwirth, Mieke M. van Haelst, Laura C. G. de Graaff
Published 2021-06-01
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Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease by Judith M. A. Verhagen, Joyce Burger, Jos A. Bekkers, Alexander T. den Dekker, Jan H. von der Thüsen, Marina Zajec, Hennie T. Brüggenwirth, Marianne L. T. van der Sterre, Myrthe van den Born, Theo M. Luider, Wilfred F. J. van IJcken, Marja W. Wessels, Jeroen Essers, Jolien W. Roos-Hesselink, Ingrid van der Pluijm, Ingrid M. B. H. van de Laar, Erwin Brosens
Published 2021-12-01
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The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres by Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti
Published 2022-11-01
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Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge by Erwin Brosens, Nina C. J. Peters, Kim S. van Weelden, Kim S. van Weelden, Kim S. van Weelden, Charlotte Bendixen, Rutger W. W. Brouwer, Rutger W. W. Brouwer, Frank Sleutels, Hennie T. Bruggenwirth, Wilfred F. J. van Ijcken, Wilfred F. J. van Ijcken, Danielle C. M. Veenma, Danielle C. M. Veenma, Suzan C. M. Cochius-Den Otter, Rene M. H. Wijnen, Alex J. Eggink, Marieke F. van Dooren, Heiko Martin Reutter, Heiko Martin Reutter, Robbert J. Rottier, Robbert J. Rottier, J. Marco Schnater, Dick Tibboel, Annelies de Klein
Published 2022-02-01
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