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Sak 03807 O Vedlegg Fagleg Rapportering 2006 - Helse Vest

Sak 03807 O Vedlegg Fagleg Rapportering 2006 - Helse Vest

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170Referanseliste• Bredrup, C. et al. (IOVS-2005). Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene• Rødahl, E. et al. (AJO-<strong>2006</strong>). A second decorin frame shift mutation in a family with congenital stromal cornealdystrophy• Bredrup. C. et al. Different clinical phenotypes associated with single base pair mutations at codon 128 of the PAX6gene. AJO. Klar for innsendelse i 2007• Bredrup. C. et al. The eye in Pierson syndrome. BJO. Under bearbeidelse1 vitenskapelige artikler er publisert i <strong>2006</strong>:Rødahl E, Van Ginderdeuren R, Knappskog PM, Bredrup C, Boman H"A second decorin frame shift mutation in a family with congenital stromal cornealdystrophy."Am J Ophthalmol. <strong>2006</strong>;142(3):520-1PMID: 169356123 forskningsbiobanker er tilknyttet prosjektet:ID: 753 (FHI Biobankregisteret)"Decorins rolle ved congenital stromal hornhinnedystrofi"Ansvarlig institusjon: <strong>Helse</strong> Bergen HFAnsvarshavende: Rødahl EEtablert i <strong>2006</strong>ID: 1140 (FHI Biobankregisteret)"Decorins rolle ved medfødt stromal hornhinnedystrofi"Ansvarlig institusjon: <strong>Helse</strong> Bergen HFAnsvarshavende: Rødahl EEtablert i <strong>2006</strong>ID: 482 (FHI Biobankregisteret)"Kartlegging av familie med arvelig nystagmus"Ansvarlig institusjon: <strong>Helse</strong> Bergen HFAnsvarshavende: Rødahl EEtablert i <strong>2006</strong>Grunnforskning - Ophthalmology

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