Zobrazeno 1 - 10
of 10
pro vyhledávání: '"van Harssel, Jeske"'
Autor:
Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna
Publikováno v:
In The American Journal of Human Genetics 3 June 2021 108(6):1053-1068
Autor:
Loviglio, Maria Nicla, Jønch, Aia Elise, Popadin, Konstantin, Giannuzzi, Giuliana, Maillard, Anne M., Fagerberg, Christina, Andersen, Charlotte Brasch, Doco-Fenzy, Martine, Delrue, Marie-Ange, Faivre, Laurence, Arveiler, Benoit, Geneviève, David, Schneider, Anouck, Gerard, Marion, Andrieux, Joris, El Chehadeh, Salima, Schaefer, Elise, Depienne, Christel, Van Haelst, Mieke, Brilstra, Eva H., Van Binsbergen, Ellen, van Harssel, Jeske, van der Veken, Lars T., Gusella, James F., Shen, Yiping, Mitchell, Elyse, Kini, Usha, Hawkes, Lara, Campbell, Carolyn, Butschi, Florence Niel, Addor, Marie-Claude, Beckmann, Jacques S., Jacquemont, Sébastien, Reymond, Alexandre, Arbogast, Thomas, Collins, Stephan C., Bonnet, Camille S., Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle
Publikováno v:
In The American Journal of Human Genetics 5 October 2017 101(4):564-577
Autor:
Harakalova, Magdalena1, van Harssel, Jeske J T1, Terhal, Paulien A2, van Lieshout, Stef2, Duran, Karen2, Renkens, Ivo2, Amor, David J3, Wilson, Louise C4, Kirk, Edwin P5, Turner, Claire L S6, Shears, Debbie7, Garcia-Minaur, Sixto8, Lees, Melissa M4, Ross, Alison9, Venselaar, Hanka10, Vriend, Gert10, Takanari, Hiroki11, Rook, Martin B11, van der Heyden, Marcel A G11, Asselbergs, Folkert W12
Publikováno v:
Nature Genetics. Jul2012, Vol. 44 Issue 7, p793-796. 4p.
Autor:
Meuwissen, Marije E.C., Halley, Dicky J.J., Smit, Liesbeth S., Lequin, Maarten H., Cobben, Jan M., de Coo, René, van Harssel, Jeske, Sallevelt, Suzanne, Woldringh, Gwendolyn, van der Knaap, Marjo S., de Vries, Linda S., Mancini, Grazia M.S.
Publikováno v:
In Genetics in Medicine November 2015 17(11):843-853
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Hochstenbach, Ron, Elferink, Martin G., van Zon, Patrick H. A., Lichtenbelt, Klaske D., van Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C. M. L.
Publikováno v:
Clinical Case Reports; May2018, Vol. 6 Issue 5, p788-791, 4p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Ian R. Berry, Martin R. Larsen, Ann M. Neumeyer, Lilian Bomme Ousager, Leah J. Rowe, Richard E. Person, Chanika Phornphutkul, David A. Koolen, Constance T. R. M. Stumpel, Konrad Platzer, Elizabeth J. Bhoj, Eric Chater-Diehl, Jason Bunn, Erika Leenders, Koen L.I. van Gassen, Joshua Charkow, Rosanna Weksberg, Ny Hoang, Roos Cuperus, Davor Lessel, Rolph Pfundt, Oana Caluseriu, Sarah J. Goodman, Leandra Folk, Fanggeng Zou, Michelle T. Siu, David Chitayat, Dmitrijs Rots, Jeroen R. Vermeulen, Shuxi Liu, Cheryl Cytrynbaum, Elin Tønne, Hein Brackel, Mareike Mertens, Jennifer Campbell, Jonathan B. Strober, Maja Hempel, Tjitske Kleefstra, Małgorzata J.M. Nowaczyk, Amy Crunk, Marta Pacio-Míguez, Fernando Santos-Simarro, Nicola Brunetti-Pierri, Christa de Geus, María Palomares-Bralo, Lisenka E.L.M. Vissers, Sander Pajusalu, Peter Kannu, Sanaa Choufani, Kristin Lindstrom, Margarita Saenz, Berkley Schmidt, Daniëlle G.M. Bosch, Han G. Brunner, Arie van Haeringen, Ellen van Binsbergen, Brianna Pruniski, Claudia A. L. Ruivenkamp, William G. Wilson, Servi J. C. Stevens, Susan Walker, Kristian Tveten, Zain Awamleh, Gerarda Cappuccio, Alexander J. M. Dingemans, Michael Kwint, Ebba Alkhunaizi, Jonas Denecke, Alyssa Ritter, Eric W. Klee, Bert B.A. de Vries, Jeske V.T. van Harssel, Stephen Meyn, A. Chantal Deden, Francisca Millan, Eva Morava, Ingrid M. Wentzensen, Anne Slavotinek, Stephen W. Scherer, Katrin Õunap, Tuula Rinne, Jessica A. Radley, Yili Xie, Thatjana Gardeitchik, Laura Schultz-Rogers, Karit Reinson, Ronald D. Cohn, Hui Yang
Publikováno v:
American journal of human genetics, vol 108, iss 6
American Journal of Human Genetics
American Journal of Human Genetics, 108, 1053-1068
American Journal of Human Genetics, 108, 6, pp. 1053-1068
American Journal of Human Genetics, 108(6), 1053-1068. CELL PRESS
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, 108(6), 1053-1068. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 108, 1053-1068
American Journal of Human Genetics, 108, 6, pp. 1053-1068
American Journal of Human Genetics, 108(6), 1053-1068. CELL PRESS
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, 108(6), 1053-1068. Cell Press
Contains fulltext : 234078.pdf (Publisher’s version ) (Open Access) Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627d030c3d4e791377a8f96b90170fc8
https://escholarship.org/uc/item/16q9g96p
https://escholarship.org/uc/item/16q9g96p
Autor:
Hochstenbach R; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., Nikkels PG; Department of Pathology, University Medical Center Utrecht, The Netherlands., Elferink MG; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., Oudijk MA; Department of Obstetrics and Gynecology, University Medical Center Utrecht, The Netherlands., van Oppen C; Department of Obstetrics and Gynecology, University Medical Center Utrecht, The Netherlands., van Zon P; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., van Harssel J; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., Schuring-Blom H; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., Page-Christiaens GC; Department of Obstetrics and Gynecology, University Medical Center Utrecht, The Netherlands.
Publikováno v:
Clinical case reports [Clin Case Rep] 2015 Jun; Vol. 3 (6), pp. 489-91. Date of Electronic Publication: 2015 Apr 29.