Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Perla Thulin"'
Publikováno v:
Tuesday, April 25.
Autor:
Asbjørg Stray-Pedersen, Anne Ronan, Yunru Shao, Eric Haan, Katharina Steindl, Zöe Powis, Perla Thulin, Giuseppe Testa, Janneke H M Schuurs-Hoeijmakers, William J. Craigen, Raman Kumar, David Rodriguez-Buritica, Michele Gabriele, Laura S. Farach, Susanne Kjaergaard, Rolph Pfundt, Jillian Nicholl, Jozef Gecz, Petter Strømme, Stefan H. Lelieveld, Kenjiro Kosaki, Sally Ann Lynch, Kimberly M. Nugent, Willy M. Nillesen, Bregje W.M. van Bon, Jill A. Rosenfeld, Charlotte Brasch-Andersen, Eirik Frengen, Lisenka E.L.M. Vissers, Scott D. McLean, Evelyn Douglas, Joris Andrieux, David A. Koolen, Anneke T. Vulto-van Silfhout, Han G. Brunner, Arie van Haeringen, Jenny Morton, Sophie Patrier, Anita Rauch, Christeen Ramane J. Pedurupillay, Pierre-Luc Germain, Peter J. Anderson, Christian Gilissen, Christian P. Schaaf, Alessandro Vitriolo, Jennifer Friedman, Toshiki Takenouchi, Pascal Chambon, Bert B.A. de Vries, Doriana Misceo, Pernille Mathiesen Tørring
Publikováno v:
American Journal of Human Genetics, 100(6), 907-925. Cell Press
Gabriele, M, Vulto-van Silfhout, A T, Germain, P-L, Vitriolo, A, Kumar, R, Douglas, E, Haan, E, Kosaki, K, Takenouchi, T, Rauch, A, Steindl, K, Frengen, E, Misceo, D, Pedurupillay, C R J, Stromme, P, Rosenfeld, J A, Shao, Y, Craigen, W J, Schaaf, C P, Rodriguez-Buritica, D, Farach, L, Friedman, J, Thulin, P, McLean, S D, Nugent, K M, Morton, J, Nicholl, J, Andrieux, J, Stray-Pedersen, A, Chambon, P, Patrier, S, Lynch, S A, Kjaergaard, S, Tørring, P M, Brasch-Andersen, C, Ronan, A, van Haeringen, A, Anderson, P J, Powis, Z, Brunner, H G, Pfundt, R, Schuurs-Hoeijmakers, J H M, van Bon, B W M, Lelieveld, S, Gilissen, C, Nillesen, W M, Vissers, L E L M, Gecz, J, Koolen, D A, Testa, G & de Vries, B B A 2017, ' YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction ', American Journal of Human Genetics, vol. 100, no. 6, pp. 907-925 . https://doi.org/10.1016/j.ajhg.2017.05.006
American Journal of Human Genetics, 100, 6, pp. 907-925
American Journal of Human Genetics, 100(6), 907-925
American Journal of Human Genetics, 100, 907-925
Gabriele, M, Vulto-van Silfhout, A T, Germain, P-L, Vitriolo, A, Kumar, R, Douglas, E, Haan, E, Kosaki, K, Takenouchi, T, Rauch, A, Steindl, K, Frengen, E, Misceo, D, Pedurupillay, C R J, Stromme, P, Rosenfeld, J A, Shao, Y, Craigen, W J, Schaaf, C P, Rodriguez-Buritica, D, Farach, L, Friedman, J, Thulin, P, McLean, S D, Nugent, K M, Morton, J, Nicholl, J, Andrieux, J, Stray-Pedersen, A, Chambon, P, Patrier, S, Lynch, S A, Kjaergaard, S, Tørring, P M, Brasch-Andersen, C, Ronan, A, van Haeringen, A, Anderson, P J, Powis, Z, Brunner, H G, Pfundt, R, Schuurs-Hoeijmakers, J H M, van Bon, B W M, Lelieveld, S, Gilissen, C, Nillesen, W M, Vissers, L E L M, Gecz, J, Koolen, D A, Testa, G & de Vries, B B A 2017, ' YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction ', American Journal of Human Genetics, vol. 100, no. 6, pp. 907-925 . https://doi.org/10.1016/j.ajhg.2017.05.006
American Journal of Human Genetics, 100, 6, pp. 907-925
American Journal of Human Genetics, 100(6), 907-925
American Journal of Human Genetics, 100, 907-925
Contains fulltext : 174704.pdf (Publisher’s version ) (Open Access) Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of g
Autor:
Thomas R. Haven, Stacey L. Clardy, Perla Thulin, Jonathan Galli, Scott McNally, Michael Sweeney, Anne E. Tebo
Publikováno v:
BMJ Case Reports
We utilise a clinical case to highlight why exclusion of voltage-gated potassium channel (VGKC)-complex autoantibody testing in serological evaluation of patients may delay or miss the diagnosis. A 68-year-old man presented with increasing involuntar
Publikováno v:
Neurology. 50:1920-1921