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Number of items: 4.

Le Goff, C; Mahaut, C; Wang, L W; Allali, S; Abhyankar, A; Jensen, S; Zylberberg, L; Collod-Beroud, G; Bonnet, D; Alanay, Y; Brady, A F; Cordier, M P; Devriendt, K; Genevieve, D; Kiper, P Ö S; Kitoh, H; Krakow, D; Lynch, S A; Le Merrer, M; Mégarbane, A; Mortier, G; Odent, S; Polak, M; Rohrbach, M; Sillence, D; Stolte-Dijkstra, I; Superti-Furga, A; Rimoin, D L; Topouchian, V; Unger, S; Zabel, B; Bole-Feysot, C; Nitschke, P; Handford, P; Casanova, J L; Boileau, C; Apte, S S; Munnich, A; Cormier-Daire, V (2011). Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. American Journal of Human Genetics, 89(1):7-14.

Holman, S K; Daniel, P; Jenkins, Z A; Herron, R L; Morgan, T; Savarirayan, R; Chow, C W; Bohring, A; Mosel, A; Lacombe, D; Steiner, B; Schmitt-Mechelke, T; Schroter, B; Raas-Rothschild, A; Miñaur, S G; Porteous, M; Parker, M; Quarrell, O; Tapon, D; Cormier-Daire, V; Mansour, S; Nash, R; Bindoff, L A; Fiskerstrand, T; Robertson, S P (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A, 155(10):2397-2408.

Kleefstra, T; van Zelst-Stams, W A; Nillesen, W M; Cormier-Daire, V; Houge, G; Foulds, N; van Dooren, M; Willemsen, M H; Pfundt, R; Turner, A; Wilson, M; McGaughran, J; Rauch, A; Zenker, M; Adam, M P; Innes, M; Davies, C; López González-Meneses, A; Casalone, R; Weber, A; Brueton, L A; Navarro Delicado, A; Bralo Palomares, M; Venselaar, H; Stegmann, S P A; Yntema, H G; van Bokhoven, H; Brunner, H G (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46(9):598-606.

de Beaucoudrey, L; Puel, A; Filipe-Santos, O; Cobat, A; Ghandil, P; Chrabieh, M; Feinberg, J; von Bernuth, H; Samarina, A; Jannière, L; Fieschi, C; Stéphan, J L; Boileau, C; Lyonnet, S; Jondeau, G; Cormier-Daire, V; Le Merrer, M; Hoarau, C; Lebranchu, Y; Lortholary, O; Chandesris, M O; Tron, F; Gambineri, E; Bianchi, L; Rodriguez-Gallego, C; Zitnik, S E; Vasconcelos, J; Guedes, M; Vitor, A B; Marodi, L; Chapel, H; Reid, B; Roifman, C; Nadal, D; Reichenbach, J; Caragol, I; Garty, B Z; Dogu, F; Camcioglu, Y; Gülle, S; Sanal, O; Fischer, A; Abel, L; Stockinger, B; Picard, C; Casanova, J L (2008). Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. Journal of Experimental Medicine, 205(7):1543-1550.

This list was generated on Thu Jul 20 17:02:46 2017 CEST.