A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance von Hageman, Isabel C, van Rooij, Iris A L M, de Blaauw, Ivo, Trajanovska, Misel, King, Sebastian K

Volltext

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases von Smits, Rosanne M, Vissers, Eline, Te Pas, Rosan, Roebbers, Noor, Feitz, Wout F J, van Rooij, Iris A L M, de Blaauw, Ivo, Verhaak, Chris M

Volltext

Surgical Complications in Children with CDH: A Multivariate Analysis von Heiwegen, Kim, van Rooij, Iris A. L. M., van Heijst, Arno, de Blaauw, Ivo, Botden, Sanne M. B. I.

Volltext

Genome-wide association analyses identify variants in developmental genes associated with hypospadias von Geller, Frank, Feenstra, Bjarke, Carstensen, Lisbeth, Pers, Tune H, van Rooij, Iris A L M, Körberg, Izabella Baranowska, Choudhry, Shweta, Karjalainen, Juha M, Schnack, Tine H, Hollegaard, Mads V, Feitz, Wout F J, Roeleveld, Nel, Hougaard, David M, Hirschhorn, Joel N, Franke, Lude, Baskin, Laurence S, Nordenskjöld, Agneta, van der Zanden, Loes F M, Melbye, Mads

Volltext

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association von Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Yung Gee, Heon, 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, Märzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöthen, 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

Volltext

Health-related quality of life in children with congenital vascular malformations von Bouwman, Frédérique C. M., Verhaak, Chris, de Blaauw, Ivo, Kool, Leo J. Schultze, Loo, D. Maroeska W. M. te, van Rooij, Iris A. L. M., van der Vleuten, Carine J. M., Botden, Sanne M. B. I., Verhoeven, Bas H.

Volltext

Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study von van der Steeg, Hendrik J.J., van Rooij, Iris A.L.M., Iacobelli, Barbara D., Sloots, Cornelius E.J., Morandi, Anna, Broens, Paul M.A., Makedonsky, Igor, Leon, Francesco Fascetti, Schmiedeke, Eberhard, Vázquez, Araceli García, Miserez, Marc, Lisi, Gabriele, Midrio, Paola, Amerstorfer, Eva E., Fanjul, Maria, Ludwiczek, Johanna, Stenström, Pernilla, van der Steeg, Alida F.W., de Blaauw, Ivo

Volltext

The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics von Hageman, Isabel C, Midrio, Paola, van der Steeg, Hendrik J J, Jenetzky, Ekkehart, Iacobelli, Barbara D, Morandi, Anna, Sloots, Cornelius E J, Schmiedeke, Eberhard, Broens, Paul M A, Fascetti Leon, Francesco, Çavuşoğlu, Yusuf H, Gorter, Ramon R, Trajanovska, Misel, King, Sebastian K, Aminoff, Dalia, Schwarzer, Nicole, Haanen, Michel, de Blaauw, Ivo, van Rooij, Iris A L M

Volltext

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene von Stevens, Servi J. C., Stumpel, Constance T. R. M., Diderich, Karin E. M., Slegtenhorst, Marjon A., Abbott, Mary‐Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., Putte, Romy, Rooij, Iris A. L. M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.

Volltext

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study von Groen in 't Woud, Sander, Renkema, Kirsten Y., Schreuder, Michiel F., Wijers, Charlotte H.W., van der Zanden, Loes F.M., Knoers, Nine V.A.M., Feitz, Wout F.J., Bongers, Ernie M.H.F., Roeleveld, Nel, van Rooij, Iris A.L.M.

Volltext

Deletions and loss-of-function variants in TP63 associated with orofacial clefting von Khandelwal, Kriti D, van den Boogaard, Marie-José H, Mehrem, Sarah L, Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina, van Rooij, Iris A L M, Roeleveld, Nel, Christensen, Kaare, Schoenaers, Joseph, Bergé, Stefaan, Murray, Jeffrey C, Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U, Mangold, Elisabeth, Hoischen, Alexander, Zhou, Huiqing, Dötsch, Volker, Carels, Carine E L, van Bokhoven, Hans

Volltext

The clinical efficacy and cost effectiveness of the vacuum-assisted closure technique in the management of acute and chronic wounds: a randomized controlled trial von Braakenburg, Assa, Obdeijn, Miryam C, Feitz, Reinier, van Rooij, Iris A L M, van Griethuysen, Arjanne J, Klinkenbijl, Jean H G

Volltext

Genetic and environmental factors driving congenital solitary functioning kidney von Groen in ‘t Woud, Sander, van Gelder, Marleen M H J, van Rooij, Iris A L M, Feitz, Wout F J, Roeleveld, Nel, Schreuder, Michiel F, van der Zanden, Loes F M

Volltext

Theory Before the Test: How to Build High-Verisimilitude Explanatory Theories in Psychological Science von van Rooij, Iris, Baggio, Giosuè

Volltext

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations von Haghshenas, Sadegheh, Karimi, Karim, Stevenson, Roger E., Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, Rzasa, Jessica, McConkey, Haley, Lauzon-Young, Carolyn, Balci, Tugce B., White-Brown, Alexandre M., Carter, Melissa T., Richer, Julie, Armour, Christine M., Sawyer, Sarah L., Bhola, Priya T., Tedder, Matthew L., Skinner, Cindy D., van Rooij, Iris A.L.M., van de Putte, Romy, de Blaauw, Ivo, Koeck, Rebekka M., Hoischen, Alexander, Brunner, Han, Esteki, Masoud Zamani, Pelet, Anna, Lyonnet, Stanislas, Amiel, Jeanne, Boycott, Kym M., Sadikovic, Bekim

Volltext

Risk factors for different phenotypes of hypospadias: results from a Dutch case–control study von Rooij, Iris A.L.M., Zanden, Loes F.M., Brouwers, Marijn M., Knoers, Nine V.A.M., Feitz, Wout F.J., Roeleveld, Nel

Volltext

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT von Nicolaou, Nayia, Pulit, Sara L., Nijman, Isaac J., Monroe, Glen R., Feitz, Wout F.J., Schreuder, Michiel F., van Eerde, Albertien M., de Jong, Tom P.V.M., Giltay, Jacques C., van der Zwaag, Bert, Havenith, Marlies R., Zwakenberg, Susan, van der Zanden, Loes F.M., Poelmans, Geert, Cornelissen, Elisabeth A.M., Lilien, Marc R., Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M., Cuppen, Edwin, Bongers, Ernie M.H.F., Giles, Rachel H., Knoers, Nine V.A.M., Renkema, Kirsten Y.

Volltext

Teratogenic mechanisms of medical drugs von van Gelder, Marleen M.H.J., van Rooij, Iris A.L.M., Miller, Richard K., Zielhuis, Gerhard A., de Jong-van den Berg, Lolkje T.W., Roeleveld, Nel

Volltext

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review von Wijers, Charlotte H. W., van Rooij, Iris A. L. M., Marcelis, Carlo L. M., Brunner, Han G., de Blaauw, Ivo, Roeleveld, Nel

Volltext

Rectal atresia and rectal stenosis: the ARM-Net Consortium experience von de Beaufort, Cunera M. C., Gorter, Ramon R., Iacobelli, Barbara D., Midrio, Paola, Sloots, Cornelius E. J., Samuk, Inbal, van Rooij, Iris A. L. M., Lisi, Gabriele

Volltext