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American Journal of Medical Genetics. Part A
|
May 7, 2015
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti
Sarah Hull, Gavin Arno, Penelope Thomson, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
December 14, 2011
Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy
Elliott H Sohn, Praveen J Patel, Robert E MacLaren, et al.
Ophthalmic Genetics
|
July 12, 2021
A Novel Pathogenic <i>NOD2</i> Variant in a Mother and Daughter with Blau Syndrome
Filipa G Rodrigues, Harry Petrushkin, Andrew R Webster, et al.
Translational Vision Science & Technology
|
December 10, 2016
A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics
Jasleen K Jolly, Siegfried K Wagner, Jonathan Moules, et al.
American Journal of Ophthalmology Case Reports
|
April 13, 2019
Isolated rod dysfunction associated with a novel genotype of <i>CNGB1</i>
Rola Ba-Abbad, Graham E Holder, Anthony G Robson, et al.
Plos Genetics
|
February 27, 2023
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation
Hannah Currant, Tomas W Fitzgerald, Praveen J Patel, et al.
Ophthalmology
|
November 25, 2021
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization
Michalis Georgiou, Lucia Finocchio, Kaoru Fujinami, et al.
Journal of Clinical Medicine
|
January 14, 2021
Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia
Adam M Dubis, Wei S Lim, Jasleen K Jolly, et al.
Ophthalmology
|
June 15, 2005
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy
Michel Michaelides, Susan E Wilkie, Sharon Jenkins, et al.
Molecular Vision
|
November 23, 2013
Clinical characteristics of early retinal disease due to CDHR1 mutation
Rola Ba-Abbad, Panagiotis I Sergouniotis, Vincent Plagnol, et al.
Page
of 38
Search research articles
Search
Showing results (71-80 of 372) with videos related to
Sort By:
Page
of 38
American Journal of Medical Genetics. Part A
|
May 7, 2015
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti
Sarah Hull, Gavin Arno, Penelope Thomson, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
December 14, 2011
Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy
Elliott H Sohn, Praveen J Patel, Robert E MacLaren, et al.
Ophthalmic Genetics
|
July 12, 2021
A Novel Pathogenic <i>NOD2</i> Variant in a Mother and Daughter with Blau Syndrome
Filipa G Rodrigues, Harry Petrushkin, Andrew R Webster, et al.
Translational Vision Science & Technology
|
December 10, 2016
A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics
Jasleen K Jolly, Siegfried K Wagner, Jonathan Moules, et al.
American Journal of Ophthalmology Case Reports
|
April 13, 2019
Isolated rod dysfunction associated with a novel genotype of <i>CNGB1</i>
Rola Ba-Abbad, Graham E Holder, Anthony G Robson, et al.
Plos Genetics
|
February 27, 2023
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation
Hannah Currant, Tomas W Fitzgerald, Praveen J Patel, et al.
Ophthalmology
|
November 25, 2021
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization
Michalis Georgiou, Lucia Finocchio, Kaoru Fujinami, et al.
Journal of Clinical Medicine
|
January 14, 2021
Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia
Adam M Dubis, Wei S Lim, Jasleen K Jolly, et al.
Ophthalmology
|
June 15, 2005
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy
Michel Michaelides, Susan E Wilkie, Sharon Jenkins, et al.
Molecular Vision
|
November 23, 2013
Clinical characteristics of early retinal disease due to CDHR1 mutation
Rola Ba-Abbad, Panagiotis I Sergouniotis, Vincent Plagnol, et al.
Page
of 38