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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.

Endele, S; Rosenberger, G; Geider, K; Popp, B; Tamer, C; Stefanova, I; Milh, M; Kortüm, F; Fritsch, A; Pientka, F K; Hellenbroich, Y; Kalscheuer, V M; Kohlhase, J; Moog, U; Rappold, G; Rauch, A; Ropers, H H; von Spiczak, S; Tönnies, H; Villeneuve, N; Villard, L; Zabel, B; Zenker, M; Laube, B; Reis, A; Wieczorek, D; Van Maldergem, L; Kutsche, K (2010). Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics, 42(11):1021-1026.

Unger, S; Böhm, D; Kaiser, F J; Kaulfuss, S; Borozdin, W; Buiting, K; Burfeind, P; Böhm, J; Barrionuevo, F; Craig, A; Borowski, K; Keppler-Noreuil, K; Schmitt-Mechelke, T; Steiner, B; Bartholdi, D; Lemke, J; Mortier, G; Sandford, R; Zabel, B; Superti-Furga, A; Kohlhase, J (2008). Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genetics, 40(3):287-289.

This list was generated on Thu Jan 18 15:38:45 2018 CET.