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Arundhati Dev Borman

Showing results (11-20 of 16) with videos related to

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JAMA Ophthalmology|May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 4, 2014
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver diseaseFelicity Payne, Koini Lim, Amandine Girousse, et al.
Plos One|March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapyMei Hong Tan, Donna S Mackay, Jill Cowing, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
JAMA Ophthalmology|May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 4, 2014
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver diseaseFelicity Payne, Koini Lim, Amandine Girousse, et al.
Plos One|March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapyMei Hong Tan, Donna S Mackay, Jill Cowing, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Pageof 2