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Archives of Ophthalmology (Chicago, Ill. : 1960)
|
September 10, 2003
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration
Dror Sharon, Michael A Sandberg, Rafael C Caruso, et al.
Translational Vision Science & Technology
|
February 16, 2023
An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy
Mor Hanany, Richard Rui Yang, Chun Man Lam, et al.
Investigative Ophthalmology & Visual Science
|
December 7, 2007
A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews
Noa Auslender, Dror Sharon, Anan H Abbasi, et al.
Genes
|
July 27, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes
Maria Abu Elasal, Samira Mousa, Manar Salameh, et al.
Molecular Vision
|
July 9, 2011
Clinical evaluation of two consanguineous families with homozygous mutations in BEST1
Teresa Piñeiro-Gallego, María Álvarez, Inés Pereiro, et al.
International Journal of Molecular Sciences
|
April 12, 2022
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in <i>FAM161A</i>
Avigail Beryozkin, Ananya Samanta, Prakadeeswari Gopalakrishnan, et al.
European Journal of Ophthalmology
|
November 1, 2022
Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies
Ravid Ben-Avi, Antonio Rivera, Karen Hendler, et al.
Frontiers in Molecular Neuroscience
|
October 16, 2018
Photoreceptor Guanylate Cyclase (<i>GUCY2D</i>) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca<sup>2+</sup>-Dependent Cyclic GMP Synthesis
Hanna Wimberg, Dorit Lev, Keren Yosovich, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 16, 2012
Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism
Tareq Jaouni, Edward Averbukh, Tal Burstyn-Cohen, et al.
American Journal of Human Genetics
|
October 18, 2003
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
Dror Sharon, Michael A Sandberg, Vivian W Rabe, et al.
Page
of 15
Search research articles
Search
Showing results (31-40 of 150) with videos related to
Sort By:
Page
of 15
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
September 10, 2003
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration
Dror Sharon, Michael A Sandberg, Rafael C Caruso, et al.
Translational Vision Science & Technology
|
February 16, 2023
An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy
Mor Hanany, Richard Rui Yang, Chun Man Lam, et al.
Investigative Ophthalmology & Visual Science
|
December 7, 2007
A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews
Noa Auslender, Dror Sharon, Anan H Abbasi, et al.
Genes
|
July 27, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes
Maria Abu Elasal, Samira Mousa, Manar Salameh, et al.
Molecular Vision
|
July 9, 2011
Clinical evaluation of two consanguineous families with homozygous mutations in BEST1
Teresa Piñeiro-Gallego, María Álvarez, Inés Pereiro, et al.
International Journal of Molecular Sciences
|
April 12, 2022
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in <i>FAM161A</i>
Avigail Beryozkin, Ananya Samanta, Prakadeeswari Gopalakrishnan, et al.
European Journal of Ophthalmology
|
November 1, 2022
Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies
Ravid Ben-Avi, Antonio Rivera, Karen Hendler, et al.
Frontiers in Molecular Neuroscience
|
October 16, 2018
Photoreceptor Guanylate Cyclase (<i>GUCY2D</i>) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca<sup>2+</sup>-Dependent Cyclic GMP Synthesis
Hanna Wimberg, Dorit Lev, Keren Yosovich, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 16, 2012
Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism
Tareq Jaouni, Edward Averbukh, Tal Burstyn-Cohen, et al.
American Journal of Human Genetics
|
October 18, 2003
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
Dror Sharon, Michael A Sandberg, Vivian W Rabe, et al.
Page
of 15