Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 4.

Becker, Jutta; Semler, O; Gilissen, C; Li, Y; Bolz, H J; Giunta, C; Bergmann, C; Rohrbach, M; Koerber, F; Zimmermann, K; de Vries, P; Wirth, B; Schoenau, E; Wollnik, B; Veltman, J A; Hoischen, A; Netzer, C (2011). Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. American Journal of Human Genetics, 88(3):362-371.

Valencia, M; Lapunzina, P; Lim, D; Zannolli, R; Bartholdi, D; Wollnik, B; Al-Ajlouni, O; Eid, S S; Cox, H; Buoni, S; Hayek, J; Martinez-Frias, M L; Perez-Aytes, A; Temtamy, S; Aglan, M; Goodship, J A; Ruiz-Perez, V L (2009). Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Human Mutation, 30(12):1667-1675.

Witsch-Baumgartner, M; Schwentner, I; Gruber, M; Benlian, P; Bertranpetit, J; Bieth, E; Chevy, F; Clusellas, N; Estivill, X; Gasparini, G; Giros, M; Kelley, R I; Krajewska-Walasek, M; Menzel, J; Miettinen, T; Ogorelkova, M; Rossi, M; Scala, I; Schinzel, A; Schmidt, K; Schönitzer, D; Seemanova, E; Sperling, K; Syrrou, M; Talmud, P J; Wollnik, B; Krawczak, M; Labuda, D; Utermann, G (2008). Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Journal of Medical Genetics, 45(4):200-209.

Budde, B S; Namavar, Y; Barth, P G; Poll-The, B T; Nürnberg, G; Becker, C; van Ruissen, F; Weterman, M A J; Fluiter, K; te Beek, E T; Aronica, E; van der Knaap, M S; Höhne, W; Toliat, M R; Crow, Y J; Steinling, M; Voit, T; Roelens, F; Brussel, W; Brockmann, K; Kyllerman, M; Boltshauser, E; Hammersen, G; Willemsen, M A; Basel-Vanagaite, L; Krägeloh-Mann, I; de Vries, L S; Sztriha, L; Muntoni, F; Ferrie, C D; Battini, R; Hennekam, R C M; Grillo, E; Beemer, F A; Stoets, L M E; Wollnik, B; Nürnberg, P; Baas, F (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics, 40(9):1113-1118.

This list was generated on Mon Jun 25 00:01:36 2018 CEST.