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Ruth Riise

Showing results (11-20 of 19) with videos related to

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Acta Ophthalmologica|July 6, 2013
Cataract development in Norwegian patients with congenital aniridiaUlla Edén, Neil Lagali, Anette Dellby, et al.
Acta Ophthalmologica|February 3, 2009
Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS geneKaja Kristine Selmer, Jan Grøndahl, Ruth Riise, et al.
Acta Ophthalmologica Scandinavica|March 23, 2007
Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort studyRuth Riise, Jan Ygge, Carl Lindman, et al.
Molecular Vision|September 15, 2006
The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46Lars Hansen, Wenliang Yao, Hans Eiberg, et al.
Human Mutation|February 2, 2010
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genesTina Duelund Hjortshøj, Karen Grønskov, Alisdair R Philp, et al.
Human Molecular Genetics|May 6, 2009
X-linked cataract and Nance-Horan syndrome are allelic disordersMargherita Coccia, Simon P Brooks, Tom R Webb, et al.
American Journal of Human Genetics|January 14, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
Acta Ophthalmologica Scandinavica|June 14, 2005
Nordic research in ophthalmologyAnders Heijl, Peep V Algvere, Albert Alm, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Acta Ophthalmologica|July 6, 2013
Cataract development in Norwegian patients with congenital aniridiaUlla Edén, Neil Lagali, Anette Dellby, et al.
Acta Ophthalmologica|February 3, 2009
Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS geneKaja Kristine Selmer, Jan Grøndahl, Ruth Riise, et al.
Acta Ophthalmologica Scandinavica|March 23, 2007
Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort studyRuth Riise, Jan Ygge, Carl Lindman, et al.
Molecular Vision|September 15, 2006
The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46Lars Hansen, Wenliang Yao, Hans Eiberg, et al.
Human Mutation|February 2, 2010
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genesTina Duelund Hjortshøj, Karen Grønskov, Alisdair R Philp, et al.
Human Molecular Genetics|May 6, 2009
X-linked cataract and Nance-Horan syndrome are allelic disordersMargherita Coccia, Simon P Brooks, Tom R Webb, et al.
American Journal of Human Genetics|January 14, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
Acta Ophthalmologica Scandinavica|June 14, 2005
Nordic research in ophthalmologyAnders Heijl, Peep V Algvere, Albert Alm, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
Pageof 2