Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted

Por van den Hondel, Desiree, Wijers, Charlotte H. W., van Bever, Yolande, de Klein, Annelies, Marcelis, Carlo L. M., de Blaauw, Ivo, Sloots, Cornelius E. J., IJsselstijn, Hanneke
Publicado no Eur J Pediatr (2015)

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across...

Por Wijers, Charlotte H. W., de Blaauw, Ivo, Marcelis, Carlo L. M., Wijnen, Rene M. H., Brunner, Han, Midrio, Paola, Gamba, Piergiorgio, Clementi, Maurizio, Jenetzky, Ekkehart, Zwink, Nadine, Reutter, Heiko, Bartels, Enrika, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Hosie, Stuart, Märzheuser, Stefanie, Schmiedeke, Eberhard, Crétolle, Célia, Sarnacki, Sabine, Levitt, Marc A., Knoers, Nine V. A. M., Roeleveld, Nel, van Rooij, Iris A. L. M.
Publicado em 2010

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Por Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Gee, Heon Yung, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Mäzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöhen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm
Publicado em 2013