Maintenance: Wednesday, 22 November 2017, 07:00-08:00
Maintenance work on the ZORA servers is provided. There may be short interruptions in the service between 07:00 and 08:00. Thank you for your patience.
Adamsen, D; Meili, D; Blau, N; Thöny, B; Ramaekers, V (2011). Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants. Molecular Genetics and Metabolism, 102(3):368-373.
Brasil, S; Viecelli, H M; Meili, D; Rassi, A; Desviat, L R; Pérez, B; Ugarte, M; Thöny, B (2011). Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency. Human Mutation, 32(9):1019-1027.
Meili, D; Kralovicova, J; Zagalak, J; Bonafé, L; Fiori, L; Blau, N; Thöny, B; Vorechovsky, I (2009). Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Human Mutation, 30(5):823-831.
Karacic, I; Meili, D; Sarnavka, V; Heintz, C; Thony, B; Petkovic Ramadza, D; Fumic, K; Mardesic, D; Baric, I; Blau, N (2009). Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Molecular Genetics and Metabolism, 97(3):165-171.
Su, C W; Tharin, S; Jin, Y; Wightman, B; Spector, M; Meili, D; Tsung, N; Rhiner, C; Bourikas, D; Stoeckli, E T; Garriga, G; Horvitz, H R; Hengartner, M O (2006). The short coiled-coil domain-containing protein UNC-69 cooperates with UNC-76 to regulate axonal outgrowth and normal presynaptic organization in Caenorhabditis elegans. Journal of Biology, 5:9.