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Retina (Philadelphia, Pa.)
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March 11, 2014
Prph2 mutations as a cause of electronegative ERG
Rola Ba-Abbad, Anthony G Robson, Yew C Yap, et al.
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.
Human Genome Variation
|
February 23, 2017
Pleiotropic effect of a novel mutation in <i>GCNT2</i> causing congenital cataract and a rare adult i blood group phenotype
Sek-Shir Cheong, Sarah Hull, Benjamin Jones, et al.
The British Journal of Ophthalmology
|
January 30, 2016
The ophthalmic presentation of Hermansky-Pudlak syndrome 6
Sarah Hull, Gavin Arno, Graham E Holder, et al.
Ophthalmic Genetics
|
November 24, 2022
Retinopathy and optic atrophy in a case of <i>COQ2</i>-related primary coenzyme Q<sub>10</sub> deficiency
Jeannette Y Stallworth, David R Blair, Anne Slavotinek, et al.
Ophthalmic Surgery, Lasers & Imaging Retina
|
February 16, 2019
Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma
Andrew W Stacey, Maria Pefkianaki, Tomas Ilginis, 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.
European Journal of Human Genetics : EJHG
|
March 28, 2013
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans
Vanita Berry, Cheryl Gregory-Evans, Warren Emmett, et al.
BMC Medical Genetics
|
July 16, 2016
Analysis of copy number variation at DMBT1 and age-related macular degeneration
Shamik Polley, Valentina Cipriani, Jane C Khan, et al.
Retina (Philadelphia, Pa.)
|
March 12, 2011
Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa
Anthony G Robson, Adnan Tufail, Fred Fitzke, et al.
Page
of 28
Search research articles
Search
Showing results (61-70 of 277) with videos related to
Sort By:
Page
of 28
Retina (Philadelphia, Pa.)
|
March 11, 2014
Prph2 mutations as a cause of electronegative ERG
Rola Ba-Abbad, Anthony G Robson, Yew C Yap, et al.
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.
Human Genome Variation
|
February 23, 2017
Pleiotropic effect of a novel mutation in <i>GCNT2</i> causing congenital cataract and a rare adult i blood group phenotype
Sek-Shir Cheong, Sarah Hull, Benjamin Jones, et al.
The British Journal of Ophthalmology
|
January 30, 2016
The ophthalmic presentation of Hermansky-Pudlak syndrome 6
Sarah Hull, Gavin Arno, Graham E Holder, et al.
Ophthalmic Genetics
|
November 24, 2022
Retinopathy and optic atrophy in a case of <i>COQ2</i>-related primary coenzyme Q<sub>10</sub> deficiency
Jeannette Y Stallworth, David R Blair, Anne Slavotinek, et al.
Ophthalmic Surgery, Lasers & Imaging Retina
|
February 16, 2019
Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma
Andrew W Stacey, Maria Pefkianaki, Tomas Ilginis, 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.
European Journal of Human Genetics : EJHG
|
March 28, 2013
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans
Vanita Berry, Cheryl Gregory-Evans, Warren Emmett, et al.
BMC Medical Genetics
|
July 16, 2016
Analysis of copy number variation at DMBT1 and age-related macular degeneration
Shamik Polley, Valentina Cipriani, Jane C Khan, et al.
Retina (Philadelphia, Pa.)
|
March 12, 2011
Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa
Anthony G Robson, Adnan Tufail, Fred Fitzke, et al.
Page
of 28