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1by Jae, Lucas T., Raaben, Matthijs, Riemersma, Moniek, van Beusekom, Ellen, Blomen, Vincent A., Velds, Arno, Kerkhoven, Ron. M., Carette, Jan E., Topaloglu, Haluk, Meinecke, Peter, Wessels, Marja W., Lefeber, Dirk J., Whelan, Sean P., van Bokhoven, Hans, Brummelkamp, Thijn R.Get full text
Published in Science (American Association for the Advancement of Science)
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2by Tomas-Roca, Laura, Tsaalbi-Shtylik, Anastasia, Jansen, Jacob G, Singh, Manvendra K, Epstein, Jonathan A, Altunoglu, Umut, Verzijl, Harriette, Soria, Laura, van Beusekom, Ellen, Roscioli, Tony, Iqbal, Zafar, Gilissen, Christian, Hoischen, Alexander, de Brouwer, Arjan P M, Erasmus, Corrie, Schubert, Dirk, Brunner, Han, Pérez Aytés, Antonio, Marin, Faustino, Aroca, Pilar, Kayserili, Hülya, Carta, Arturo, de Wind, Niels, Padberg, George W, van Bokhoven, HansGet full text
Published in Nature communications
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3by 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, HansGet full text
Published in European journal of human genetics : EJHG
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4by van Tol, Walinka, van Scherpenzeel, Monique, Alsady, Mohammad, Riemersma, Moniek, Hermans, Esther, Kragt, Else, Tasca, Giorgio, Kamsteeg, Erik-Jan, Pennings, Maartje, van Beusekom, Ellen, Vermeulen, Jeroen R, van Bokhoven, Hans, Voermans, Nicol C, Willemsen, Michèl A, Ashikov, Angel, Lefeber, Dirk JGet full text
Published in Clinical chemistry (Baltimore, Md.)
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5by Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, van Beusekom, Ellen, van der Zwaag, Bert, Kayserili, Hülya, Merlini, Luciano, Chitayat, David, Dobyns, William B., Cormand, Bru, Lehesjoki, Ana-Elina, Cruces, Jesús, Voit, Thomas, Walsh, Christopher A., van Bokhoven, Hans, Brunner, Han G.Get full text
Published in American journal of human genetics
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6by Schrauwen, Isabelle, Valgaeren, Hanne, Tomas-Roca, Laura, Sommen, Manou, Altunoglu, Umut, Wesdorp, Mieke, Beyens, Matthias, Fransen, Erik, Nasir, Abdul, Vandeweyer, Geert, Schepers, Anne, Rahmoun, Malika, van Beusekom, Ellen, Huentelman, Matt J, Offeciers, Erwin, Dhooghe, Ingeborg, Huber, Alex, Van de Heyning, Paul, Zanetti, Diego, De Leenheer, Els M R, Gilissen, Christian, Hoischen, Alexander, Cremers, Cor W, Verbist, Berit, de Brouwer, Arjan P M, Padberg, George W, Pennings, Ronald, Kayserili, Hülya, Kremer, Hannie, Van Camp, Guy, van Bokhoven, HansGet full text
Published in Genetics in medicine
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7by de Boer, Elke, Marcelis, Carlo, Neveling, Kornelia, van Beusekom, Ellen, Hoischen, Alexander, Klein, Willemijn M., de Leeuw, Nicole, Mantere, Tuomo, Melo, Uirá S., van Reeuwijk, Jeroen, Smeets, Dominique, Spielmann, Malte, Kleefstra, Tjitske, van Bokhoven, Hans, Vissers, Lisenka E.L.M.Get full text
Published in HGG advances
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8Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndromeby Buysse, Karen, Riemersma, Moniek, Powell, Gareth, van Reeuwijk, Jeroen, Chitayat, David, Roscioli, Tony, Kamsteeg, Erik-Jan, van den Elzen, Christa, van Beusekom, Ellen, Blaser, Susan, Babul-Hirji, Riyana, Halliday, William, Wright, Gavin J, Stemple, Derek L, Lin, Yung-Yao, Lefeber, Dirk J, van Bokhoven, HansGet full text
Published in Human molecular genetics
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10by Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, RezaGet full text
Published in American journal of human genetics
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11by Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, Roa Fuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Vander Poorten, Vincent, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.Get full text
Published in Genetics in medicine
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12by Iqbal, Zafar, Cejudo-Martin, Pilar, de Brouwer, Arjan, van der Zwaag, Bert, Ruiz-Lozano, Pilar, Scimia, M. Cecilia, Lindsey, James D., Weinreb, Robert, Albrecht, Beate, Megarbane, Andre, Alanay, Yasemin, Ben-Neriah, Ziva, Amenduni, Mariangela, Artuso, Rosangela, Veltman, Joris A., van Beusekom, Ellen, Oudakker, Astrid, Millán, José Luis, Hennekam, Raoul, Hamel, Ben, Courtneidge, Sara A., van Bokhoven, HansGet full text
Published in American journal of human genetics
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13by Celli, Jacopo, van Beusekom, Ellen, Hennekam, Raoul C.M., Gallardo, M. Esther, Smeets, Dominique F.C.M., de Córdoba, Santiago Rodríguez, Innis, Jeffrey W., Frydman, Moshe, König, Rainer, Kingston, Helen, Tolmie, John, Govaerts, Lutgarde C.P., van Bokhoven, Hans, Brunner, Han G.Get full text
Published in American journal of human genetics
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14by Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, van Bokhoven, Hans, Fitzpatrick, David RGet full text
Published in PLoS genetics
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15by van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R.W., Neri, Giovanni, Brunner, Han G.Get full text
Published in American journal of human genetics
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16by Buysse, Karen, Riemersma, Moniek, Powell, Gareth, van Reeuwijk, Jeroen, Chitayat, David, Roscioli, Tony, Kamsteeg, Erik-Jan, van den Elzen, Christa, van Beusekom, Ellen, Blaser, Susan, Babul-Hirji, Riyana, Halliday, William, Wright, Gavin J, Stemple, Derek L, Lin, Yung-Yao, Lefeber, Dirk J, van Bokhoven, HansGet full text
Published in Human molecular genetics
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17by Rainger, Joe, Beusekom, Ellen van, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, Bokhoven, Hans van, FitzPatrick, David RGet full text
Published in PLoS genetics
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18by de Kok, Yvette J. M., Bom, Steven J. H., Brunt, Tibor M., Kemperman, Martijn H., van Beusekom, Ellen, van der Velde-Visser, Saskia D., Robertson, Nahid G., Morton, Cynthia C., Huygen, Patrick L. M., Verhagen, Wim I. M., Brunner, Han G., Cremers, Cor W. R. J., Cremers, Frans P. M.Get full text
Published in Human molecular genetics
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