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Number of items: 4.

Douzgou, S; Clayton-Smith, J; Gardner, S; Day, R; Griffiths, P; Strong, K; Amiel, J; Baraitser, M; Brueton, L; Brunner, H; Chrzanowska, K; Dallapiccola, B; Del Campo Casanelles, M; Devriendt, K; Donnai, D; Fitzpatrick, D; Gillessen-Kaesbach, G; Houge, G; Kerr, B; Krajewska-Walasek, M; Lacombe, D; Meinecke, P; Metcalfe, K; Mortier, G; Odent, S; Philip, N; Prescott, T; Raas-Rothschild, A; Rauch, A; Rittinger, O; Salonen, R; Schrander-Stumpel, C; Suri, M; Temple, K; Tolmie, J; Van Der Burgt, I; Verloes, A; Wieczorek, D; Zenker, M (2014). Dysmorphology at a distance: results of a web-based diagnostic service. European Journal of Human Genetics, 22(3):327-332.

Burkitt Wright, E M M; Spencer, H L; Daly, S B; Manson, F D C; Zeef, L A H; Urquhart, J; Zoppi, N; Bonshek, R; Tosounidis, I; Mohan, M; Madden, C; Dodds, A; Chandler, K E; Banka, S; Au, L; Clayton-Smith, J; Khan, N; Biesecker, L G; Wilson, M; Rohrbach, M; Colombi, M; Giunta, C; Black, G C M (2011). Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. American Journal of Human Genetics, 88(6):767-777.

Orrico, A; Galli, L; Faivre, L; Clayton-Smith, J; Azzarello-Burri, S M; Hertz, J M; Jacquemont, S; Taurisano, R; Arroyo Carrera, I; Tarantino, E; Devriendt, K; Melis, D; Thelle, T; Meinhardt, U; Sorrentino, V (2010). Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of theFGD1gene. American Journal of Medical Genetics. Part A, 152A(2):313-318.

Hennies, H C; Kornak, U; Zhang, H; Egerer, J; Zhang, X; Seifert, W; Kühnisch, J; Budde, B; Nätebus, M; Brancati, F; Wilcox, W R; Müller, D; Kaplan, P B; Rajab, A; Zampino, G; Fodale, V; Dallapiccola, B; Newman, W; Metcalfe, K; Clayton-Smith, J; Tassabehji, M; Steinmann, B; Barr, F A; Nürnberg, P; Wieacker, P; Mundlos, S (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40(12):1410-1412.

This list was generated on Sun Dec 17 04:17:30 2017 CET.