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Science (New York, N.Y.)|July 26, 2008
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndromeNoriko Miyake, John Chilton, Maria Psatha, et al.
American Journal of Ophthalmology|August 25, 2022
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease SeverityEleonora M Lad, Jacque L Duncan, Wendi Liang, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 14, 2011
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsSamuel G Jacobson, Artur V Cideciyan, Ramakrishna Ratnakaram, et al.
Investigative Ophthalmology & Visual Science|November 15, 2012
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseKari Branham, Mohammad Othman, Matthew Brumm, et al.
Investigative Ophthalmology & Visual Science|June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille SyndromeMariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
Translational Vision Science & Technology|August 25, 2020
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano SymposiumDebra A Thompson, Alessandro Iannaccone, Robin R Ali, et al.
Translational Vision Science & Technology|August 27, 2025
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano SymposiumDebra A Thompson, K Thiran Jayasundera, Oleg Alekseev, et al.
The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
The British Journal of Ophthalmology|July 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyAustin D Igelman, Elizabeth White, Alaa Tayyib, et al.
NPJ Genomic Medicine|April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypesRyan E Schmidt, Amy E Pohodich, David Birch, et al.
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