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Retinal Cases & Brief Reports
|
November 13, 2014
De novo mutation in a choroideremia carrier
Simge Bozbeyoglu, Gerald A Fishman, Edwin M Stone, et al.
Experimental Eye Research
|
July 7, 2011
Elevated membrane attack complex in human choroid with high risk complement factor H genotypes
Robert F Mullins, Aaron D Dewald, Luan M Streb, et al.
American Journal of Ophthalmology
|
November 27, 2007
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States
John H Fingert, Wallace L M Alward, Young H Kwon, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
September 15, 2015
Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial
Budd A Tucker, Cathryn M Cranston, Kristin A Anfinson, et al.
Elife
|
August 31, 2013
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa
Budd A Tucker, Robert F Mullins, Luan M Streb, et al.
Ophthalmology
|
June 1, 2017
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Edwin M Stone, Jeaneen L Andorf, S Scott Whitmore, et al.
Nature Genetics
|
July 16, 2002
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
Ophthalmology
|
October 29, 2015
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
Kent W Small, Adam P DeLuca, S Scott Whitmore, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 8) with videos related to
Sort By:
Page
of 1
Retinal Cases & Brief Reports
|
November 13, 2014
De novo mutation in a choroideremia carrier
Simge Bozbeyoglu, Gerald A Fishman, Edwin M Stone, et al.
Experimental Eye Research
|
July 7, 2011
Elevated membrane attack complex in human choroid with high risk complement factor H genotypes
Robert F Mullins, Aaron D Dewald, Luan M Streb, et al.
American Journal of Ophthalmology
|
November 27, 2007
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States
John H Fingert, Wallace L M Alward, Young H Kwon, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
September 15, 2015
Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial
Budd A Tucker, Cathryn M Cranston, Kristin A Anfinson, et al.
Elife
|
August 31, 2013
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa
Budd A Tucker, Robert F Mullins, Luan M Streb, et al.
Ophthalmology
|
June 1, 2017
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Edwin M Stone, Jeaneen L Andorf, S Scott Whitmore, et al.
Nature Genetics
|
July 16, 2002
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
Ophthalmology
|
October 29, 2015
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
Kent W Small, Adam P DeLuca, S Scott Whitmore, et al.
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of 1