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Journal of Medical Genetics
|
February 5, 2002
In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients
C 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 Service
K 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 gene
P 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 inheritance
V 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 gene
R 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 acuity
A 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 recovery
V 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 females
S 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 degeneration
E 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 mutations
E R Maher, A R Webster, F M Richards, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 45) with videos related to
Sort By:
Page
of 5
Journal of Medical Genetics
|
February 5, 2002
In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients
C 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 Service
K 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 gene
P 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 inheritance
V 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 gene
R 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 acuity
A 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 recovery
V 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 females
S 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 degeneration
E 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 mutations
E R Maher, A R Webster, F M Richards, et al.
Page
of 5