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Namavar, Y; Barth, P G; Kasher, P R; van Ruissen, F; Brockmann, K; Bernert, G; Writzl, K; Ventura, K; Cheng, E Y; Ferriero, D M; Basel-Vanagaite, L; Eggens, V R C; Krägeloh-Mann, I; De Meirleir, L; King, M; Graham, J M; von Moers, A; Knoers, N; Sztriha, L; Korinthenberg, R; Dobyns, W B; Baas, F; Poll-The, B T (2011). Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain: A Journal of Neurology, 134(Pt 1):143-156.

Bielas, S L; Silhavy, J L; Brancati, F; Kisseleva, M V; Al-Gazali, L; Sztriha, L; Bayoumi, R A; Zaki, M S; Abdel-Aleem, A; Rosti, R O; Kayserili, H; Swistun, D; Scott, L C; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, S J; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, P W; Valente, E M; Gleeson, J G (2009). Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nature Genetics, 41(9):1032-6.

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 Wed Sep 19 19:00:26 2018 CEST.