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A R Webster

Showing results (21-30 of 45) with videos related to

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Journal of Medical Genetics|February 5, 2002
In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patientsC Grayson, J P Chapple, K R Willison, et al.
Clinical Genetics|May 11, 2016
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health ServiceK N Khan, R Chana, N Ali, et al.
Eye (London, England)|April 16, 2011
Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG geneP I Sergouniotis, A E Davidson, K Sehmi, et al.
The British Journal of Ophthalmology|January 30, 2008
Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritanceV Vaclavik, C Chakarova, S S Bhattacharya, et al.
Eye (London, England)|February 1, 2014
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D geneR Mukherjee, A G Robson, G E Holder, et al.
The British Journal of Ophthalmology|March 21, 2006
Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuityA G Robson, Z Saihan, S A Jenkins, et al.
Eye (London, England)|December 13, 2005
Functional observations in vitamin A deficiency: diagnosis and time course of recoveryV A McBain, C A Egan, S J Pieris, et al.
The British Journal of Ophthalmology|May 29, 2003
Isolated foveal retinoschisis as a cause of visual loss in young femalesS A Kabanarou, G E Holder, A C Bird, et al.
Nature Genetics|December 8, 1998
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degenerationE M Stone, A R Webster, K Vandenburgh, et al.
Journal of Medical Genetics|April 1, 1996
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutationsE R Maher, A R Webster, F M Richards, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
Journal of Medical Genetics|February 5, 2002
In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patientsC Grayson, J P Chapple, K R Willison, et al.
Clinical Genetics|May 11, 2016
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health ServiceK N Khan, R Chana, N Ali, et al.
Eye (London, England)|April 16, 2011
Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG geneP I Sergouniotis, A E Davidson, K Sehmi, et al.
The British Journal of Ophthalmology|January 30, 2008
Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritanceV Vaclavik, C Chakarova, S S Bhattacharya, et al.
Eye (London, England)|February 1, 2014
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D geneR Mukherjee, A G Robson, G E Holder, et al.
The British Journal of Ophthalmology|March 21, 2006
Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuityA G Robson, Z Saihan, S A Jenkins, et al.
Eye (London, England)|December 13, 2005
Functional observations in vitamin A deficiency: diagnosis and time course of recoveryV A McBain, C A Egan, S J Pieris, et al.
The British Journal of Ophthalmology|May 29, 2003
Isolated foveal retinoschisis as a cause of visual loss in young femalesS A Kabanarou, G E Holder, A C Bird, et al.
Nature Genetics|December 8, 1998
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degenerationE M Stone, A R Webster, K Vandenburgh, et al.
Journal of Medical Genetics|April 1, 1996
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutationsE R Maher, A R Webster, F M Richards, et al.
Pageof 5