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Human Genetics
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July 7, 2018
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis
Anil Chekuri, Aditya A Guru, Pooja Biswas, et al.
Investigative Ophthalmology & Visual Science
|
August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations
Christina Gerth-Kahlert, Amit Tiwari, James V M Hanson, et al.
Clinical & Experimental Ophthalmology
|
February 27, 2026
Decline of Visual Function and Risk of Legal Blindness With Age in RPGR-Associated Retinal Degeneration: A Multicenter Study
Bela J Parekh, Joshua D Stein, Rebhi Abuzaitoun, et al.
Human Mutation
|
September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
Nicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Investigative Ophthalmology & Visual Science
|
February 5, 2025
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll
Kari Branham, Lassana Samarakoon, Isabelle Audo, et al.
Investigative Ophthalmology & Visual Science
|
November 15, 2012
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease
Kari Branham, Mohammad Othman, Matthew Brumm, et al.
Plos Genetics
|
October 18, 2021
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, et al.
Human Genetics
|
September 5, 2013
Genome-wide association study and meta-analysis of intraocular pressure
A Bilge Ozel, Sayoko E Moroi, David M Reed, et al.
BMC Ophthalmology
|
May 8, 2016
Worldwide Argus II implantation: recommendations to optimize patient outcomes
Devon H Ghodasra, Adrienne Chen, J Fernando Arevalo, et al.
Human Mutation
|
August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
Donna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 54) with videos related to
Sort By:
Page
of 6
Human Genetics
|
July 7, 2018
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis
Anil Chekuri, Aditya A Guru, Pooja Biswas, et al.
Investigative Ophthalmology & Visual Science
|
August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations
Christina Gerth-Kahlert, Amit Tiwari, James V M Hanson, et al.
Clinical & Experimental Ophthalmology
|
February 27, 2026
Decline of Visual Function and Risk of Legal Blindness With Age in RPGR-Associated Retinal Degeneration: A Multicenter Study
Bela J Parekh, Joshua D Stein, Rebhi Abuzaitoun, et al.
Human Mutation
|
September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
Nicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Investigative Ophthalmology & Visual Science
|
February 5, 2025
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll
Kari Branham, Lassana Samarakoon, Isabelle Audo, et al.
Investigative Ophthalmology & Visual Science
|
November 15, 2012
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease
Kari Branham, Mohammad Othman, Matthew Brumm, et al.
Plos Genetics
|
October 18, 2021
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, et al.
Human Genetics
|
September 5, 2013
Genome-wide association study and meta-analysis of intraocular pressure
A Bilge Ozel, Sayoko E Moroi, David M Reed, et al.
BMC Ophthalmology
|
May 8, 2016
Worldwide Argus II implantation: recommendations to optimize patient outcomes
Devon H Ghodasra, Adrienne Chen, J Fernando Arevalo, et al.
Human Mutation
|
August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
Donna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Page
of 6