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Human Mutation
|
November 5, 2011
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation
Isabelle Audo, Saddek Mohand-Saïd, Claire-Marie Dhaenens, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 4, 2020
Interplay between cell-adhesion molecules governs synaptic wiring of cone photoreceptors
Yan Cao, Yuchen Wang, Henry A Dunn, et al.
American Journal of Ophthalmology
|
August 30, 2019
Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy
Edouard Augstburger, Raphaëlle Orès, Saddek Mohand-Said, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2011
Copy-number variations in EYS: a significant event in the appearance of arRP
Juan I Pieras, Isabel Barragán, Salud Borrego, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 11, 2010
An unusual retinal phenotype associated with a novel mutation in RHO
Isabelle Audo, Anne Friedrich, Saddek Mohand-Saïd, et al.
International Journal of Molecular Sciences
|
June 24, 2022
Large Benefit from Simple Things: High-Dose Vitamin A Improves <i>RBP4</i>-Related Retinal Dystrophy
Vasily M Smirnov, Baptiste Wilmet, Marco Nassisi, et al.
The European Journal of Neuroscience
|
May 23, 2015
LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation
Marion Neuillé, Catherine W Morgans, Yan Cao, et al.
Retina (Philadelphia, Pa.)
|
April 4, 2025
LONG-TERM OUTCOMES OF ANTI-VEGF THERAPY FOR MACULAR NEOVASCULARIZATION IN PRPH2-ASSOCIATED RETINOPATHY
Lorenzo Bianco, Isabelle Audo, Alessio Antropoli, et al.
Research Square
|
June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degeneration
Riccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Genes
|
February 21, 2019
Novel Missense Mutations in <i>BEST1</i> Are Associated with Bestrophinopathies in Lebanese Patients
Lama Jaffal, Wissam H Joumaa, Alexandre Assi, et al.
Page
of 16
Search research articles
Search
Showing results (51-60 of 155) with videos related to
Sort By:
Page
of 16
Human Mutation
|
November 5, 2011
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation
Isabelle Audo, Saddek Mohand-Saïd, Claire-Marie Dhaenens, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 4, 2020
Interplay between cell-adhesion molecules governs synaptic wiring of cone photoreceptors
Yan Cao, Yuchen Wang, Henry A Dunn, et al.
American Journal of Ophthalmology
|
August 30, 2019
Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy
Edouard Augstburger, Raphaëlle Orès, Saddek Mohand-Said, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2011
Copy-number variations in EYS: a significant event in the appearance of arRP
Juan I Pieras, Isabel Barragán, Salud Borrego, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 11, 2010
An unusual retinal phenotype associated with a novel mutation in RHO
Isabelle Audo, Anne Friedrich, Saddek Mohand-Saïd, et al.
International Journal of Molecular Sciences
|
June 24, 2022
Large Benefit from Simple Things: High-Dose Vitamin A Improves <i>RBP4</i>-Related Retinal Dystrophy
Vasily M Smirnov, Baptiste Wilmet, Marco Nassisi, et al.
The European Journal of Neuroscience
|
May 23, 2015
LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation
Marion Neuillé, Catherine W Morgans, Yan Cao, et al.
Retina (Philadelphia, Pa.)
|
April 4, 2025
LONG-TERM OUTCOMES OF ANTI-VEGF THERAPY FOR MACULAR NEOVASCULARIZATION IN PRPH2-ASSOCIATED RETINOPATHY
Lorenzo Bianco, Isabelle Audo, Alessio Antropoli, et al.
Research Square
|
June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degeneration
Riccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Genes
|
February 21, 2019
Novel Missense Mutations in <i>BEST1</i> Are Associated with Bestrophinopathies in Lebanese Patients
Lama Jaffal, Wissam H Joumaa, Alexandre Assi, et al.
Page
of 16