Ruth Riise
Innlandet Hospital Trust(NO)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Ophthalmology and Visual Impairment Studies, Hedgehog Signaling Pathway Studies, Genetic Syndromes and Imprinting, Amino Acid Enzymes and Metabolism
Most-Cited Works
- → Identification of the gene that, when mutated, causes the human obesity syndrome BBS4(2001)269 cited
- → Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)(2003)136 cited
- → Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21(1997)124 cited
- → In Vivo Morphology of the Limbal Palisades of Vogt Correlates With Progressive Stem Cell Deficiency in Aniridia-Related Keratopathy(2013)106 cited
- → A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect(2016)101 cited
- → Incidence of registered visual impairment in the Nordic child population.(1996)98 cited
- → Intrafamilial variation of the phenotype in Bardet-Biedl syndrome(1997)82 cited
- → Visual impairment in Nordic children(1992)79 cited
- → Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes(2010)78 cited
- → Epidemiology of aniridia in Sweden and Norway(2008)74 cited