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American Journal of Ophthalmology
|
August 20, 2013
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function
Kaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
American Journal of Ophthalmology
|
August 18, 2025
SNRNP200- associated Retinopathy: In-depth Clinical Phenotyping and Genetic Characterization
Juan C Romo-Aguas, Yannik Laich, Angelos Kalitzeos, et al.
American Journal of Human Genetics
|
August 16, 2006
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans
Huimin Wu, Jill A Cowing, Michel Michaelides, et al.
Investigative Ophthalmology & Visual Science
|
April 26, 2008
Phenotypic variation in enhanced S-cone syndrome
Isabelle Audo, Michel Michaelides, Anthony G Robson, et al.
Ophthalmology Science
|
April 23, 2026
Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy
Juan C Romo-Aguas, Thales A C de Guimarāes, Angelos Kalitzeos, et al.
Clinical Genetics
|
June 12, 2024
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
Siying Lin, Anthony G Robson, Dorothy A Thompson, et al.
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.
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.
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of 19
Search research articles
Search
Showing results (141-150 of 188) with videos related to
Sort By:
Page
of 19
American Journal of Ophthalmology
|
August 20, 2013
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function
Kaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
American Journal of Ophthalmology
|
August 18, 2025
SNRNP200- associated Retinopathy: In-depth Clinical Phenotyping and Genetic Characterization
Juan C Romo-Aguas, Yannik Laich, Angelos Kalitzeos, et al.
American Journal of Human Genetics
|
August 16, 2006
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans
Huimin Wu, Jill A Cowing, Michel Michaelides, et al.
Investigative Ophthalmology & Visual Science
|
April 26, 2008
Phenotypic variation in enhanced S-cone syndrome
Isabelle Audo, Michel Michaelides, Anthony G Robson, et al.
Ophthalmology Science
|
April 23, 2026
Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy
Juan C Romo-Aguas, Thales A C de Guimarāes, Angelos Kalitzeos, et al.
Clinical Genetics
|
June 12, 2024
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
Siying Lin, Anthony G Robson, Dorothy A Thompson, et al.
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.
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.
Page
of 19