Zobrazeno 1 - 10
of 19
pro vyhledávání: '"van Bon, Bregje W.M."'
Autor:
Van der Aa, Nathalie, Rooms, Liesbeth, Vandeweyer, Geert, van den Ende, Jenneke, Reyniers, Edwin, Fichera, Marco, Romano, Corrado, Delle Chiaie, Barbara, Mortier, Geert, Menten, Björn, Destrée, Anne, Maystadt, Isabelle, Männik, Katrin, Kurg, Ants, Reimand, Tiia, McMullan, Dom, Oley, Christine, Brueton, Louise, Bongers, Ernie M.H.F., van Bon, Bregje W.M., Pfund, Rolph, Jacquemont, Sebastien, Ferrarini, Alessandra, Martinet, Danielle, Schrander-Stumpel, Connie, Stegmann, Alexander P.A., Frints, Suzanna G.M., de Vries, Bert B.A., Ceulemans, Berten, Kooy, R. Frank
Publikováno v:
In European Journal of Medical Genetics 2009 52(2):94-100
Autor:
Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Christeen Ramane, Pedurupillay Jesuthasan, Strømme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjærgaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zoë, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Publikováno v:
Gabriele, Michele Vulto-van Silfhout, Anneke T. Germain, Pierre-Luc Vitriolo, Alessandro Kumar, Raman Douglas, Evelyn Haan, Eric Kosaki, Kenjiro Takenouchi, Toshiki Rauch, Anita Steindl, Katharina Frengen, Eirik Misceo, Doriana Christeen Ramane, Pedurupillay Jesuthasan Strømme, Petter Rosenfeld, Jill A. Shao, Yunru Craigen, William J. Schaaf, Christian P. Rodriguez-Buritica, David Farach, Laura Friedman, Jennifer Thulin, Perla McLean, Scott D. Nugent, Kimberly M. Morton, Jenny Nicholl, Jillian Andrieux, Joris Stray-Pedersen, Asbjørg Chambon, Pascal Patrier, Sophie Lynch, Sally A. Kjærgaard, Susanne Tørring, Pernille M. Brasch-Andersen, Charlotte Ronan, Anne van Haeringen, Arie Anderson, Peter J. Powis, Zoë Brunner, Han G. Pfundt, Rolph Schuurs-Hoeijmakers, Janneke H.M. van Bon, Bregje W.M. Lelieveld, Stefan Gilissen, Christian Nillesen, Willy M. Vissers, Lisenka E.L.M. Gecz, Jozef Koolen, David A. Testa, Giuseppe de Vries, Bert B.A. . YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Jo
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Externí odkaz:
http://hdl.handle.net/10852/63294
https://www.duo.uio.no/bitstream/handle/10852/63294/1/YY1haploinsufficiency%2Bsyndrome.pdf
https://www.duo.uio.no/bitstream/handle/10852/63294/1/YY1haploinsufficiency%2Bsyndrome.pdf
Autor:
Clarke, Nigel F., Waddell, Leigh B., Sie, Lilian T.L., van Bon, Bregje W.M., McLean, Catriona, Clark, Damian, Kornberg, Andrew, Lammens, Martin, North, Kathryn N.
Publikováno v:
In Neuromuscular Disorders November 2012 22(11):955-958
Autor:
Vandeweyer, Geert, Van der Aa, Nathalie, Ceulemans, Berten, van Bon, Bregje W.M., Rooms, Liesbeth, Kooy, R. Frank
Publikováno v:
In Epilepsy Research May 2012 99(3):346-349
Autor:
van Bon, Bregje W.M., Oortveld, Merel A.W., Nijtmans, Leo G., Fenckova, Michaela, Nijhof, Bonnie, Besseling, Judith, Vos, Melissa, Kramer, Jamie M., de Leeuw, Nicole, Castells-Nobau, Anna, Asztalos, Lenke, Viragh, Erika, Ruiter, Mariken, Hofmann, Falko, Eshuis, Lillian, Collavin, Licio, Huynen, Martijn A., Asztalos, Zoltan, Verstreken, Patrik, Rodenburg, Richard J.
Publikováno v:
Human Molecular Genetics; Aug2013, Vol. 22 Issue 15, p3138-3151, 14p
Autor:
Tüysüz, Beyhan, van Bon, Bregje W.M., Alp, Zeynep, Güzel, Zeki, Veltman, Joris A., de Vries, Bert B.A.
Publikováno v:
Clinical Dysmorphology; Oct2012, Vol. 21 Issue 4, p204-207, 4p
Autor:
Thierry, Gaelle, Bénéteau, Claire, Pichon, Olivier, Flori, Elisabeth, Isidor, Bertrand, Popelard, Françoise, Delrue, Marie-Ange, Duboscq-Bidot, Laetitia, Thuresson, Ann-Charlotte, van Bon, Bregje W.M., Cailley, Dorothée, Rooryck, Caroline, Paubel, Agathe, Metay, Corinne, Dusser, Anne, Pasquier, Laurent, Béri, Mylène, Bonnet, Céline, Jaillard, Sylvie, Dubourg, Christèle
Publikováno v:
American Journal of Medical Genetics. Part A; Jul2012, Vol. 158A Issue 7, p1633-1640, 8p
Autor:
van Bon, Bregje W.M.1, Gilissen, Christian1, Grange, Dorothy K.2, Hennekam, Raoul C.M.3, Kayserili, Hülya4, Engels, Hartmut5, Reutter, Heiko5,6, Ostergaard, John R.7, Morava, Eva8, Tsiakas, Konstantinos9, Isidor, Bertrand10, Le Merrer, Martine11, Eser, Metin4, Wieskamp, Nienke1, de Vries, Petra1, Steehouwer, Marloes1, Veltman, Joris A.1, Robertson, Stephen P.12, Brunner, Han G.1, de Vries, Bert B.A.1 b.devries@gen.umcn.nl
Publikováno v:
American Journal of Human Genetics. Jun2012, Vol. 90 Issue 6, p1094-1101. 8p.
Autor:
van Bon, Bregje W.M., Koolen, David A., Pfundt, Rolph, van der Burgt, Ineke, de Leeuw, Nicole, de Vries, Bert B.A.
Publikováno v:
American Journal of Medical Genetics. Part A; May 2008, Vol. 146 Issue: 9 p1225-1229, 5p
Autor:
Kumar, Raman1, Corbett, Mark A.1, van Bon, Bregje W.M.1,2, Woenig, Joshua A.1, Weir, Lloyd1, Douglas, Evelyn3, Friend, Kathryn L.3, Gardner, Alison1, Shaw, Marie1, Jolly, Lachlan A.1, Tan, Chuan1, Hunter, Matthew F.4,5, Hackett, Anna6, Field, Michael6, Palmer, Elizabeth E.6, Leffler, Melanie6, Rogers, Carolyn6, Boyle, Jackie6, Bienek, Melanie7, Jensen, Corinna7
Publikováno v:
American Journal of Human Genetics. Aug2015, Vol. 97 Issue 2, p302-310. 9p.