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Gerald A Fishman

Showing results (161-170 of 176) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|September 24, 2008
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kineticsArtur V Cideciyan, Tomas S Aleman, Sanford L Boye, et al.
Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
Human Molecular Genetics|November 10, 2012
iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degenerationRuchira Singh, Wei Shen, David Kuai, et al.
Translational Vision Science & Technology|June 10, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone StructureKatie M Litts, Erica N Woertz, Niamh Wynne, et al.
American Journal of Human Genetics|May 7, 2002
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaDebra K Breuer, Beverly M Yashar, Elena Filippova, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander, Irma Lopez, Suzanne Yzer, et al.
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
Retina (Philadelphia, Pa.)|February 2, 2017
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIAChristopher S Langlo, Laura R Erker, Maria Parker, et al.
Journal of Medical Genetics|July 13, 2013
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingXia Wang, Hui Wang, Vincent Sun, et al.
Ophthalmology|October 29, 2015
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13Kent W Small, Adam P DeLuca, S Scott Whitmore, et al.
Pageof 18

Showing results (161-170 of 176) with videos related to

Sort By:
Pageof 18
Proceedings of the National Academy of Sciences of the United States of America|September 24, 2008
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kineticsArtur V Cideciyan, Tomas S Aleman, Sanford L Boye, et al.
Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
Human Molecular Genetics|November 10, 2012
iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degenerationRuchira Singh, Wei Shen, David Kuai, et al.
Translational Vision Science & Technology|June 10, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone StructureKatie M Litts, Erica N Woertz, Niamh Wynne, et al.
American Journal of Human Genetics|May 7, 2002
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaDebra K Breuer, Beverly M Yashar, Elena Filippova, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander, Irma Lopez, Suzanne Yzer, et al.
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
Retina (Philadelphia, Pa.)|February 2, 2017
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIAChristopher S Langlo, Laura R Erker, Maria Parker, et al.
Journal of Medical Genetics|July 13, 2013
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingXia Wang, Hui Wang, Vincent Sun, et al.
Ophthalmology|October 29, 2015
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13Kent W Small, Adam P DeLuca, S Scott Whitmore, et al.
Pageof 18