Zoekresultaten - van Bon, Bregje

Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments door Morison, Lottie D., Braden, Ruth O., Amor, David J., Brignell, Amanda, van Bon, Bregje W. M., Morgan, Angela T.

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Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient door Mundhofir, Farmaditya E. P., Yntema, Helger G., van der Burgt, Ineke, Hamel, Ben C. J., Faradz, Sultana M. H., van Bon, Bregje W. M.

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Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene door Cooper, Paige E., Reutter, Heiko, Woelfle, Joachim, Engels, Hartmut, Grange, Dorothy K., van Haaften, Gijs, van Bon, Bregje W., Hoischen, Alexander, Nichols, Colin G.

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Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism door van Eyk, Clare L., Corbett, Mark A., Gardner, Alison, van Bon, Bregje W., Broadbent, Jessica L., Harper, Kelly, MacLennan, Alastair H., Gecz, Jozef

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Speech and language deficits are central to SETBP1 haploinsufficiency disorder door Morgan, Angela, Braden, Ruth, Wong, Maggie M. K., Colin, Estelle, Amor, David, Liégeois, Frederique, Srivastava, Siddharth, Vogel, Adam, Bizaoui, Varoona, Ranguin, Kara, Fisher, Simon E., van Bon, Bregje W.

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A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome door de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G

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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome door Willemsen, Michèl A, Vissers, Lisenka ELM, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron A, Veltman, Joris A, Kamsteeg, Erik-Jan

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Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study door Mundhofir, Farmaditya E. P., Nillesen, Willy M., Van Bon, Bregje W. M., Smeets, Dominique, Pfundt, Rolph, van de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri I., Hamel, Ben C. J., Yntema, Helger G., Faradz, Sultana M. H.

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The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function door Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, van Woerden, Geeske M.

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Clinical delineation of SETBP1 haploinsufficiency disorder door Jansen, Nadieh A., Braden, Ruth O., Srivastava, Siddharth, Otness, Erin F., Lesca, Gaetan, Rossi, Massimiliano, Nizon, Mathilde, Bernier, Raphael A., Quelin, Chloé, van Haeringen, Arie, Kleefstra, Tjitske, Wong, Maggie M. K., Whalen, Sandra, Fisher, Simon E., Morgan, Angela T., van Bon, Bregje W.

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DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome door White, Janson J., Mazzeu, Juliana F., Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., van Bon, Bregje W.M., Sutton, V. Reid, Lupski, James R., Brunner, Han G., Carvalho, Claudia M.B.

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Homozygosity mapping in outbred families with mental retardation door Schuurs-Hoeijmakers, Janneke H M, Hehir-Kwa, Jayne Y, Pfundt, Rolph, van Bon, Bregje W M, de Leeuw, Nicole, Kleefstra, Tjitske, Willemsen, Michèl A, van Kessel, Ad Geurts, Brunner, Han G, Veltman, Joris A, van Bokhoven, Hans, de Brouwer, Arjan P M, de Vries, Bert B A

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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability door Pagan, Cecile, Botros, Hany Goubran, Poirier, Karine, Dumaine, Anne, Jamain, Stéphane, Moreno, Sarah, de Brouwer, Arjan, Van Esch, Hilde, Delorme, Richard, Launay, Jean-Marie, Tzschach, Andreas, Kalscheuer, Vera, Lacombe, Didier, Briault, Sylvain, Laumonnier, Frédéric, Raynaud, Martine, van Bon, Bregje W, Willemsen, Marjolein H, Leboyer, Marion, Chelly, Jamel, Bourgeron, Thomas

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Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis door Hastings, Rob, Cobben, Jan-Maarten, Gillessen-Kaesbach, Gabriele, Goodship, Judith, Hove, Hanne, Kjaergaard, Susanne, Kemp, Helena, Kingston, Helen, Lunt, Peter, Mansour, Sahar, McGowan, Ruth, Metcalfe, Kay, Murdoch-Davis, Catherine, Ray, Mary, Rio, Marlène, Smithson, Sarah, Tolmie, John, Turnpenny, Peter, van Bon, Bregje, Wieczorek, Dagmar, Newbury-Ecob, Ruth

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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder door Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID door van Bon, Bregje W.M., Coe, Bradley P., Bernier, Raphael, Green, Cherie, Gerdts, Jennifer, Witherspoon, Kali, Kleefstra, Tjitske, Willemsen, Marjolein H., Kumar, Raman, Bosco, Paolo, Fichera, Marco, Li, Deana, Amaral, David, Cristofoli, Francesca, Peeters, Hilde, Haan, Eric, Romano, Corrado, Mefford, Heather C., Scheffer, Ingrid, Gecz, Jozef, de Vries, Bert B.A., Eichler, Evan E.

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Cantú Syndrome Is Caused by Mutations in ABCC9 door van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander

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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome door White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.

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Mutations in MED12 Cause X-Linked Ohdo Syndrome door Vulto-van Silfhout, Anneke T., de Vries, Bert B.A., van Bon, Bregje W.M., Hoischen, Alexander, Ruiterkamp-Versteeg, Martina, Gilissen, Christian, Gao, Fangjian, van Zwam, Marloes, Harteveld, Cornelis L., van Essen, Anthonie J., Hamel, Ben C.J., Kleefstra, Tjitske, Willemsen, Michèl A.A.P., Yntema, Helger G., van Bokhoven, Hans, Brunner, Han G., Boyer, Thomas G., de Brouwer, Arjan P.M.

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Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology door Kargapolova, Yulia, Rehimi, Rizwan, Kayserili, Hülya, Brühl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Gökhan, Hoischen, Alexander, Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian, Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa, Altmüller, Janine, Nürnberg, Peter, Längst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro, Kurian, Leo, Wollnik, Bernd, Bouazoune, Karim, Papantonis, Argyris

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