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American Journal of Ophthalmology
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March 19, 2013
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations
Kaoru Fujinami, Noemi Lois, Alice E Davidson, et al.
Molecular Therapy. Nucleic Acids
|
June 17, 2026
Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy
Farah O Rezek, Beatriz Sanchez-Pintado, Emily R Eden, et al.
American Journal of Ophthalmology
|
May 12, 2019
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly
Sarah Hull, Gavin Arno, Pia Ostergaard, et al.
Investigative Ophthalmology & Visual Science
|
May 10, 2012
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study
Arundhati Dev Borman, Louise A Ocaka, Donna S Mackay, et al.
JAMA Ophthalmology
|
June 4, 2016
Molecular and Clinical Findings in Patients With Knobloch Syndrome
Sarah Hull, Gavin Arno, Cristy A Ku, et al.
American Journal of Human Genetics
|
May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
Panagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
JAMA Ophthalmology
|
May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18
Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 10, 2011
Childhood-onset autosomal recessive bestrophinopathy
Arundhati Dev Borman, Alice E Davidson, James O'Sullivan, et al.
Investigative Ophthalmology & Visual Science
|
November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa
Galuh D N Astuti, Gavin Arno, Sarah Hull, et al.
JAMA Ophthalmology
|
September 26, 2024
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies
Ehsan Ullah, Siying Lin, Jiaxiong Lu, et al.
Page
of 38
Search research articles
Search
Showing results (241-250 of 372) with videos related to
Sort By:
Page
of 38
American Journal of Ophthalmology
|
March 19, 2013
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations
Kaoru Fujinami, Noemi Lois, Alice E Davidson, et al.
Molecular Therapy. Nucleic Acids
|
June 17, 2026
Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy
Farah O Rezek, Beatriz Sanchez-Pintado, Emily R Eden, et al.
American Journal of Ophthalmology
|
May 12, 2019
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly
Sarah Hull, Gavin Arno, Pia Ostergaard, et al.
Investigative Ophthalmology & Visual Science
|
May 10, 2012
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study
Arundhati Dev Borman, Louise A Ocaka, Donna S Mackay, et al.
JAMA Ophthalmology
|
June 4, 2016
Molecular and Clinical Findings in Patients With Knobloch Syndrome
Sarah Hull, Gavin Arno, Cristy A Ku, et al.
American Journal of Human Genetics
|
May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
Panagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
JAMA Ophthalmology
|
May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18
Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 10, 2011
Childhood-onset autosomal recessive bestrophinopathy
Arundhati Dev Borman, Alice E Davidson, James O'Sullivan, et al.
Investigative Ophthalmology & Visual Science
|
November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa
Galuh D N Astuti, Gavin Arno, Sarah Hull, et al.
JAMA Ophthalmology
|
September 26, 2024
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies
Ehsan Ullah, Siying Lin, Jiaxiong Lu, et al.
Page
of 38