Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 3.

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.

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.

Matyas, G; Arnold, E; Carrel, T; Baumgartner, D; Boileau, C; Berger, W; Steinmann, B (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.

This list was generated on Tue Nov 13 06:07:17 2018 CET.