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Number of items: 5.

Caspar, S M; Dubacher, N; Kopps, A M; Meienberg, J; Henggeler, C; Matyas, G (2018). Clinical sequencing: From raw data to diagnosis with lifetime value. Clinical Genetics, 93(3):508-519.

Hediger, M; Henggeler, C; Meier, N; Perez, R; Saccone, G; Bopp, D (2010). Molecular characterization of the key switch F provides a basis for understanding the rapid divergence of the sex-determining pathway in the housefly. Genetics, 184:155-170.

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Jamsheer, A; Henggeler, C; Wierzba, J; Loeys, B; De Paepe, A; Stheneur, C H; Badziag, B; Matuszewska, K; Mátyás, G; Latos-Bielenska, A (2009). A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. Journal of Applied Genetics, 50(4):405-410.

Mátyás, G; Alonso, S; Patrignani, A; Marti, M; Arnold, E; Magyar, I; Henggeler, C; Carrel, T; Steinmann, B; Berger, W (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human Genetics, 122(1):23-32.

This list was generated on Mon Oct 22 23:27:36 2018 CEST.