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Nature Genetics
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January 18, 2005
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
Louise A Metherell, J Paul Chapple, Sadani Cooray, et al.
Acta Neuropathologica Communications
|
February 11, 2025
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids
Dimitra Athanasiou, Tess A V Afanasyeva, Niuzheng Chai, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 2, 2009
Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina
Susana S Pires, Steven Hughes, Michael Turton, et al.
Molecular Vision
|
September 14, 2018
Novel homozygous splicing mutations in
Alessia Fiorentino, Jing Yu, Gavin Arno, et al.
Molecular Therapy. Nucleic Acids
|
December 17, 2025
Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids
Amy Leung, Pedro R L Perdigão, Almudena Sacristan-Reviriego, et al.
Investigative Ophthalmology & Visual Science
|
December 7, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy
Robert H Henderson, Naushin Waseem, Rowan Searle, et al.
Stem Cell Reports
|
September 9, 2022
Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis
Amy Leung, Almudena Sacristan-Reviriego, Pedro R L Perdigão, et al.
Ophthalmology
|
November 24, 2022
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History
Michalis Georgiou, Anthony G Robson, Katarina Jovanovic, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 9, 2007
Targeting amyloid-beta in glaucoma treatment
Li Guo, Thomas E Salt, Vy Luong, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 31, 2009
MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family
Li F Chan, Tom R Webb, Teng-Teng Chung, et al.
Page
of 17
Search research articles
Search
Showing results (101-110 of 161) with videos related to
Sort By:
Page
of 17
Nature Genetics
|
January 18, 2005
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
Louise A Metherell, J Paul Chapple, Sadani Cooray, et al.
Acta Neuropathologica Communications
|
February 11, 2025
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids
Dimitra Athanasiou, Tess A V Afanasyeva, Niuzheng Chai, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 2, 2009
Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina
Susana S Pires, Steven Hughes, Michael Turton, et al.
Molecular Vision
|
September 14, 2018
Novel homozygous splicing mutations in
Alessia Fiorentino, Jing Yu, Gavin Arno, et al.
Molecular Therapy. Nucleic Acids
|
December 17, 2025
Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids
Amy Leung, Pedro R L Perdigão, Almudena Sacristan-Reviriego, et al.
Investigative Ophthalmology & Visual Science
|
December 7, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy
Robert H Henderson, Naushin Waseem, Rowan Searle, et al.
Stem Cell Reports
|
September 9, 2022
Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis
Amy Leung, Almudena Sacristan-Reviriego, Pedro R L Perdigão, et al.
Ophthalmology
|
November 24, 2022
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History
Michalis Georgiou, Anthony G Robson, Katarina Jovanovic, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 9, 2007
Targeting amyloid-beta in glaucoma treatment
Li Guo, Thomas E Salt, Vy Luong, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 31, 2009
MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family
Li F Chan, Tom R Webb, Teng-Teng Chung, et al.
Page
of 17