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Investigative Ophthalmology & Visual Science
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September 4, 2020
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization
Matteo Di Scipio, Erika Tavares, Shriya Deshmukh, et al.
JCI Insight
|
October 22, 2024
Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication
Rabiat Adele, Rowaida Hussein, Erika Tavares, et al.
Investigative Ophthalmology & Visual Science
|
December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
Investigative Ophthalmology & Visual Science
|
April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Investigative Ophthalmology & Visual Science
|
May 14, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
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Search research articles
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Showing results (21-30 of 25) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 25 results.
Investigative Ophthalmology & Visual Science
|
September 4, 2020
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization
Matteo Di Scipio, Erika Tavares, Shriya Deshmukh, et al.
JCI Insight
|
October 22, 2024
Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication
Rabiat Adele, Rowaida Hussein, Erika Tavares, et al.
Investigative Ophthalmology & Visual Science
|
December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
Investigative Ophthalmology & Visual Science
|
April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Investigative Ophthalmology & Visual Science
|
May 14, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Page
of 3