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Investigative Ophthalmology & Visual Science
|
October 18, 2011
Complement factor D in age-related macular degeneration
Chloe M Stanton, John R W Yates, Anneke I den Hollander, et al.
Journal of Medical Genetics
|
January 24, 2007
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation
Sanjay M Sisodiya, Pamela J Thompson, Anna Need, et al.
The New England Journal of Medicine
|
April 29, 2008
Effect of gene therapy on visual function in Leber's congenital amaurosis
James W B Bainbridge, Alexander J Smith, Susie S Barker, et al.
European Journal of Human Genetics : EJHG
|
November 28, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
Gabriela E Jones, Pia Ostergaard, Anthony T Moore, et al.
Plos One
|
March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy
Mei Hong Tan, Donna S Mackay, Jill Cowing, et al.
Investigative Ophthalmology & Visual Science
|
November 10, 2012
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
Joseph Carroll, Alfredo Dubra, Jessica C Gardner, et al.
American Journal of Human Genetics
|
February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
JAMA Ophthalmology
|
May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration
Cristy A Ku, Sarah Hull, Gavin Arno, et al.
Frontiers in Physiology
|
June 25, 2019
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans
Emilia Boiadjieva Knöpfel, Clara Vilches, Simone M R Camargo, et al.
Investigative Ophthalmology & Visual Science
|
March 20, 2012
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)
James A Poulter, Alice E Davidson, Manir Ali, et al.
Page
of 28
Search research articles
Search
Showing results (231-240 of 277) with videos related to
Sort By:
Page
of 28
Investigative Ophthalmology & Visual Science
|
October 18, 2011
Complement factor D in age-related macular degeneration
Chloe M Stanton, John R W Yates, Anneke I den Hollander, et al.
Journal of Medical Genetics
|
January 24, 2007
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation
Sanjay M Sisodiya, Pamela J Thompson, Anna Need, et al.
The New England Journal of Medicine
|
April 29, 2008
Effect of gene therapy on visual function in Leber's congenital amaurosis
James W B Bainbridge, Alexander J Smith, Susie S Barker, et al.
European Journal of Human Genetics : EJHG
|
November 28, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
Gabriela E Jones, Pia Ostergaard, Anthony T Moore, et al.
Plos One
|
March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy
Mei Hong Tan, Donna S Mackay, Jill Cowing, et al.
Investigative Ophthalmology & Visual Science
|
November 10, 2012
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
Joseph Carroll, Alfredo Dubra, Jessica C Gardner, et al.
American Journal of Human Genetics
|
February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
JAMA Ophthalmology
|
May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration
Cristy A Ku, Sarah Hull, Gavin Arno, et al.
Frontiers in Physiology
|
June 25, 2019
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans
Emilia Boiadjieva Knöpfel, Clara Vilches, Simone M R Camargo, et al.
Investigative Ophthalmology & Visual Science
|
March 20, 2012
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)
James A Poulter, Alice E Davidson, Manir Ali, et al.
Page
of 28