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Ophthalmic Genetics
|
November 20, 2018
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration
Shyamanga Borooah, Chloe M Stanton, Joseph Marsh, et al.
Investigative Ophthalmology & Visual Science
|
September 3, 2010
A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls
Panagiotis I Sergouniotis, Zheng Li, Donna S Mackay, et al.
Human Molecular Genetics
|
June 23, 2016
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model
Mariya Moosajee, Dhani Tracey-White, Matthew Smart, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
November 4, 2023
Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms
Xiaofan Jiang, Taha Bhatti, Ambreen Tariq, et al.
Investigative Ophthalmology & Visual Science
|
July 29, 2003
Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity
Anthony G Robson, Ahmed El-Amir, Claire Bailey, et al.
Retina (Philadelphia, Pa.)
|
December 3, 2009
"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology
Anthony G Robson, Andrew R Webster, Michel Michaelides, et al.
Eye (London, England)
|
July 19, 2020
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy
Rola Ba-Abbad, Anthony G Robson, Omar A Mahroo, et al.
European Journal of Human Genetics : EJHG
|
October 23, 2025
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
Leon Chang, James A Poulter, Andrew R Webster, et al.
European Journal of Human Genetics : EJHG
|
January 12, 2012
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
Simon C Ramsden, Alice E Davidson, Bart P Leroy, et al.
Molecular Vision
|
September 17, 2011
Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study
Sancy Low, Alice E Davidson, Graham E Holder, et al.
Page
of 38
Search research articles
Search
Showing results (121-130 of 372) with videos related to
Sort By:
Page
of 38
Ophthalmic Genetics
|
November 20, 2018
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration
Shyamanga Borooah, Chloe M Stanton, Joseph Marsh, et al.
Investigative Ophthalmology & Visual Science
|
September 3, 2010
A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls
Panagiotis I Sergouniotis, Zheng Li, Donna S Mackay, et al.
Human Molecular Genetics
|
June 23, 2016
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model
Mariya Moosajee, Dhani Tracey-White, Matthew Smart, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
November 4, 2023
Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms
Xiaofan Jiang, Taha Bhatti, Ambreen Tariq, et al.
Investigative Ophthalmology & Visual Science
|
July 29, 2003
Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity
Anthony G Robson, Ahmed El-Amir, Claire Bailey, et al.
Retina (Philadelphia, Pa.)
|
December 3, 2009
"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology
Anthony G Robson, Andrew R Webster, Michel Michaelides, et al.
Eye (London, England)
|
July 19, 2020
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy
Rola Ba-Abbad, Anthony G Robson, Omar A Mahroo, et al.
European Journal of Human Genetics : EJHG
|
October 23, 2025
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
Leon Chang, James A Poulter, Andrew R Webster, et al.
European Journal of Human Genetics : EJHG
|
January 12, 2012
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
Simon C Ramsden, Alice E Davidson, Bart P Leroy, et al.
Molecular Vision
|
September 17, 2011
Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study
Sancy Low, Alice E Davidson, Graham E Holder, et al.
Page
of 38