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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; Pedurupillay, Christeen Ramane J; Stromme, 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; et al (2017). YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics, 100(6):907-925.

Kuehn, Hye Sun; Boisson, Bertrand; Cunningham-Rundles, Charlotte; Reichenbach, Janine; Stray-Pedersen, Asbjørg; Gelfand, Erwin W; Maffucci, Patrick; Pierce, Keith R; Abbott, Jordan K; Voelkerding, Karl V; South, Sarah T; Augustine, Nancy H; Bush, Jeana S; Dolen, William K; Wray, Betty B; Itan, Yuval; Cobat, Aurelie; Sorte, Hanne Sørmo; Ganesan, Sundar; Prader, Seraina; Martins, Thomas B; Lawrence, Monica G; Orange, Jordan S; Calvo, Katherine R; Niemela, Julie E; Casanova, Jean-Laurent; Fleisher, Thomas A; Hill, Harry R; Kumánovics, Attila; Conley, Mary Ellen; et al (2016). Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. New England Journal of Medicine, 374(11):1032-1043.

Bartholdi, Deborah; Stray-Pedersen, Asbjørg; Azzarello-Burri, Silvia; Kibaek, Maria; Kirchhoff, Maria; Oneda, Beatrice; Rødningen, Olaug; Schmitt-Mechelke, Thomas; Rauch, Anita; Kjaergaard, Susanne (2014). A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. American Journal of Medical Genetics. Part A, 164A(5):1277-1283.

This list was generated on Wed Nov 22 22:00:52 2017 CET.