Výsledky vyhledávání - Marcelis, Carlo L.M.

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

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High T2-weighted signal intensity for risk prediction of sudden cardiac death in hypertrophic cardiomyopathy Autor Gommans, D. H. Frank, Cramer, G. Etienne, Bakker, Jeannette, Dieker, Hendrik-Jan, Michels, Michelle, Fouraux, Michael A., Marcelis, Carlo L. M., Verheugt, Freek W. A., Timmermans, Janneke, Brouwer, Marc A., Kofflard, Marcel J. M.

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Maternal risk associated with the VACTERL association: A case–control study Autor van de Putte, Romy, de Walle, Hermien E. K., van Hooijdonk, Kirsten J. M., de Blaauw, Ivo, Marcelis, Carlo L. M., van Heijst, Arno, Giltay, Jacques C., Renkema, Kirsten Y., Broens, Paul M. A., Brosens, Erwin, Sloots, Cornelius E. J., Bergman, Jorieke E. H., Roeleveld, Nel, van Rooij, Iris A. L. M.

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

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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies Autor van de Putte, Romy, Dworschak, Gabriel C., Brosens, Erwin, Reutter, Heiko M., Marcelis, Carlo L. M., Acuna-Hidalgo, Rocio, Kurtas, Nehir E., Steehouwer, Marloes, Dunwoodie, Sally L., Schmiedeke, Eberhard, Märzheuser, Stefanie, Schwarzer, Nicole, Brooks, Alice S., de Klein, Annelies, Sloots, Cornelius E. J., Tibboel, Dick, Brisighelli, Giulia, Morandi, Anna, Bedeschi, Maria F., Bates, Michael D., Levitt, Marc A., Peña, Alberto, de Blaauw, Ivo, Roeleveld, Nel, Brunner, Han G., van Rooij, Iris A. L. M., Hoischen, Alexander

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

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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 Autor van de Putte, Romy, Wijers, Charlotte H. W., Reutter, Heiko, Vermeulen, Sita H., Marcelis, Carlo L. M., Brosens, Erwin, Broens, Paul M. A., Homberg, Markus, Ludwig, Michael, Jenetzky, Ekkehart, Zwink, Nadine, Sloots, Cornelius E. J., de Klein, Annelies, Brooks, Alice S., Hofstra, Robert M. W., Holsink, Sophie A. C., van der Zanden, Loes F. M., Galesloot, Tessel E., Tam, Paul Kwong-Hang, Steehouwer, Marloes, Acuna-Hidalgo, Rocio, van de Vorst, Maartje, Kiemeney, Lambertus A., Garcia-Barceló, Maria-Mercè, de Blaauw, Ivo, Brunner, Han G., Roeleveld, Nel, van Rooij, Iris A. L. M.

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Maternal risk factors for the VACTERL association: A EUROCAT case–control study Autor van de Putte, Romy, van Rooij, Iris A.L.M., Haanappel, Cynthia P., Marcelis, Carlo L.M., Brunner, Han G., Addor, Marie‐Claude, Cavero‐Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Khoshnood, Babak, Kinsner‐Ovaskainen, Agnieszka, Klungsoyr, Kari, Kurinczuk, Jenny J., Latos‐Bielenska, Anna, Luyt, Karen, O'Mahony, Mary T., Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak‐Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, de Walle, Hermien E.K., Bergman, Jorieke E.H., Roeleveld, Nel

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SLC20A1 Is Involved in Urinary Tract and Urorectal Development Autor Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Öznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjöld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Rösch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Läckgren, Göran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Bökenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger, Ludwig, Michael, Schweizer, Ulrich, Woolf, Adrian S., Odermatt, Benjamin, Reutter, Heiko

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Autor O’Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Demurger, Florence, Dowling, James J., Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F., Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Heide, Solveig, Helbig, Katherine L., Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R., Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y., Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M., Maegawa, Gustavo H.B., Marcelis, Carlo L.M., Mark, Paul R., Masruha, Marcelo R., McLaughlin, Heather M., McWalter, Kirsty, Melchinger, Esther U., Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L.P., Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A., van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G., Wentzensen, Ingrid M., Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H.

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