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Human Molecular Genetics
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December 28, 2016
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1
Farina Vocke, Nicole Weisschuh, Valerio Marino, et al.
Expert Opinion on Orphan Drugs
|
August 7, 2015
Improvement in vision: a new goal for treatment of hereditary retinal degenerations
Samuel G Jacobson, Artur V Cideciyan, Gustavo D Aguirre, et al.
Ophthalmology
|
February 20, 2007
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential
Samuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
Frontiers in Cell and Developmental Biology
|
September 6, 2021
A Novel <i>ARL3</i> Gene Mutation Associated With Autosomal Dominant Retinal Degeneration
Rinki Ratnapriya, Samuel G Jacobson, Artur V Cideciyan, et al.
The Journal of Biological Chemistry
|
May 23, 2014
Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites
Songhua Li, Tadahide Izumi, Jane Hu, et al.
Vision Research
|
February 24, 2020
Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function
Arun K Krishnan, Samuel G Jacobson, Alejandro J Roman, et al.
American Journal of Human Genetics
|
July 30, 2002
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations
Randall R Fields, Guimei Zhou, Dali Huang, et al.
BMC Ophthalmology
|
June 14, 2022
Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
Alejandro J Roman, Artur V Cideciyan, Vivian Wu, et al.
Investigative Ophthalmology & Visual Science
|
October 4, 2017
Imaging Lenticular Autofluorescence in Older Subjects
Jason Charng, Rose Tan, Chi D Luu, et al.
Investigative Ophthalmology & Visual Science
|
March 28, 2009
Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C
David S Williams, Tomas S Aleman, Concepción Lillo, et al.
Page
of 23
Search research articles
Search
Showing results (41-50 of 224) with videos related to
Sort By:
Page
of 23
Human Molecular Genetics
|
December 28, 2016
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1
Farina Vocke, Nicole Weisschuh, Valerio Marino, et al.
Expert Opinion on Orphan Drugs
|
August 7, 2015
Improvement in vision: a new goal for treatment of hereditary retinal degenerations
Samuel G Jacobson, Artur V Cideciyan, Gustavo D Aguirre, et al.
Ophthalmology
|
February 20, 2007
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential
Samuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
Frontiers in Cell and Developmental Biology
|
September 6, 2021
A Novel <i>ARL3</i> Gene Mutation Associated With Autosomal Dominant Retinal Degeneration
Rinki Ratnapriya, Samuel G Jacobson, Artur V Cideciyan, et al.
The Journal of Biological Chemistry
|
May 23, 2014
Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites
Songhua Li, Tadahide Izumi, Jane Hu, et al.
Vision Research
|
February 24, 2020
Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function
Arun K Krishnan, Samuel G Jacobson, Alejandro J Roman, et al.
American Journal of Human Genetics
|
July 30, 2002
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations
Randall R Fields, Guimei Zhou, Dali Huang, et al.
BMC Ophthalmology
|
June 14, 2022
Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
Alejandro J Roman, Artur V Cideciyan, Vivian Wu, et al.
Investigative Ophthalmology & Visual Science
|
October 4, 2017
Imaging Lenticular Autofluorescence in Older Subjects
Jason Charng, Rose Tan, Chi D Luu, et al.
Investigative Ophthalmology & Visual Science
|
March 28, 2009
Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C
David S Williams, Tomas S Aleman, Concepción Lillo, et al.
Page
of 23