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Investigative Ophthalmology & Visual Science
|
November 10, 2012
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
Joseph Carroll, Alfredo Dubra, Jessica C Gardner, et al.
American Journal of Human Genetics
|
February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
Investigative Ophthalmology & Visual Science
|
July 23, 2016
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency
Emily J Patterson, Melissa Wilk, Christopher S Langlo, et al.
Plos One
|
August 6, 2014
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness
Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, et al.
American Journal of Human Genetics
|
January 31, 2012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development
Tom R Webb, Mar Matarin, Jessica C Gardner, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacy
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
American Journal of Human Genetics
|
August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Samantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics
|
January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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Showing results (11-20 of 19) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 19 results.
Investigative Ophthalmology & Visual Science
|
November 10, 2012
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
Joseph Carroll, Alfredo Dubra, Jessica C Gardner, et al.
American Journal of Human Genetics
|
February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
Investigative Ophthalmology & Visual Science
|
July 23, 2016
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency
Emily J Patterson, Melissa Wilk, Christopher S Langlo, et al.
Plos One
|
August 6, 2014
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness
Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, et al.
American Journal of Human Genetics
|
January 31, 2012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development
Tom R Webb, Mar Matarin, Jessica C Gardner, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacy
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
American Journal of Human Genetics
|
August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Samantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics
|
January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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