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Investigative Ophthalmology & Visual Science
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February 27, 2026
CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies
Jue Chen, Connor W Davison, James Ellis, et al.
The British Journal of Ophthalmology
|
June 27, 2022
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
Laryssa A Huryn, Taylor Flaherty, Rosalie Nolen, et al.
Investigative Ophthalmology & Visual Science
|
July 10, 2025
FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma
William Presley, Su Qing Wang, Bin Guan, et al.
Biorxiv : the Preprint Server for Biology
|
May 2, 2025
Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium
Gabrielle M Rozumek, Michelle L Brinkmeier, Bin Guan, et al.
Human Molecular Genetics
|
May 31, 2012
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous
Lev Prasov, Tehmina Masud, Shagufta Khaliq, et al.
JCI Insight
|
February 26, 2026
Splicing variants in MYRF cause partial loss-of-function in the retinal pigment epithelium leading to nanophthalmos
Gabrielle M Rozumek, Michelle L Brinkmeier, Bin Guan, et al.
Scientific Reports
|
November 18, 2020
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
Lev Prasov, Bin Guan, Ehsan Ullah, et al.
Journal of Medical Genetics
|
January 26, 2021
<i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
Lev Prasov, Brenda L Bohnsack, Antonette S El Husny, et al.
Prenatal Diagnosis
|
November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis
Maud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
Plos Genetics
|
May 4, 2019
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 32) with videos related to
Sort By:
Page
of 4
Investigative Ophthalmology & Visual Science
|
February 27, 2026
CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies
Jue Chen, Connor W Davison, James Ellis, et al.
The British Journal of Ophthalmology
|
June 27, 2022
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
Laryssa A Huryn, Taylor Flaherty, Rosalie Nolen, et al.
Investigative Ophthalmology & Visual Science
|
July 10, 2025
FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma
William Presley, Su Qing Wang, Bin Guan, et al.
Biorxiv : the Preprint Server for Biology
|
May 2, 2025
Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium
Gabrielle M Rozumek, Michelle L Brinkmeier, Bin Guan, et al.
Human Molecular Genetics
|
May 31, 2012
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous
Lev Prasov, Tehmina Masud, Shagufta Khaliq, et al.
JCI Insight
|
February 26, 2026
Splicing variants in MYRF cause partial loss-of-function in the retinal pigment epithelium leading to nanophthalmos
Gabrielle M Rozumek, Michelle L Brinkmeier, Bin Guan, et al.
Scientific Reports
|
November 18, 2020
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
Lev Prasov, Bin Guan, Ehsan Ullah, et al.
Journal of Medical Genetics
|
January 26, 2021
<i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
Lev Prasov, Brenda L Bohnsack, Antonette S El Husny, et al.
Prenatal Diagnosis
|
November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis
Maud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
Plos Genetics
|
May 4, 2019
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, et al.
Page
of 4