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American Journal of Medical Genetics. Part A
|
March 26, 2018
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)
Kristin E Hirabayashi, Anthony T Moore, Bryce A Mendelsohn, et al.
American Journal of Human Genetics
|
July 19, 2011
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis
Panagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.
Investigative Ophthalmology & Visual Science
|
November 22, 2014
Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice
Margaret Dellett, Noriaki Sasai, Kenji Nishide, et al.
JIMD Reports
|
August 12, 2018
Cobalamin D Deficiency Identified Through Newborn Screening
Aya Abu-El-Haija, Bryce A Mendelsohn, Jacque L Duncan, et al.
The Journal of Biological Chemistry
|
November 1, 2014
Differential light-induced responses in sectorial inherited retinal degeneration
Eva Ramon, Arnau Cordomí, Mònica Aguilà, et al.
Orphanet Journal of Rare Diseases
|
November 27, 2020
The genetic landscape of crystallins in congenital cataract
Vanita Berry, Alex Ionides, Nikolas Pontikos, et al.
Stem Cell Research
|
June 5, 2021
Transcription factor overexpression drives reliable differentiation of retinal pigment epithelium from human induced pluripotent stem cells
Tessa E Dewell, Ketrin Gjoni, Angela Z Liu, et al.
Investigative Ophthalmology & Visual Science
|
March 14, 2015
Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy
Gavin Arno, Sarah Hull, Anthony G Robson, et al.
Ophthalmology
|
June 15, 2005
X-linked cone dysfunction syndrome with myopia and protanopia
Michel Michaelides, Samantha Johnson, Keith Bradshaw, et al.
Investigative Ophthalmology & Visual Science
|
January 17, 2013
Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy
Michelle McClements, Wayne I L Davies, Michel Michaelides, et al.
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of 28
Search research articles
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Showing results (81-90 of 277) with videos related to
Sort By:
Page
of 28
American Journal of Medical Genetics. Part A
|
March 26, 2018
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)
Kristin E Hirabayashi, Anthony T Moore, Bryce A Mendelsohn, et al.
American Journal of Human Genetics
|
July 19, 2011
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis
Panagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.
Investigative Ophthalmology & Visual Science
|
November 22, 2014
Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice
Margaret Dellett, Noriaki Sasai, Kenji Nishide, et al.
JIMD Reports
|
August 12, 2018
Cobalamin D Deficiency Identified Through Newborn Screening
Aya Abu-El-Haija, Bryce A Mendelsohn, Jacque L Duncan, et al.
The Journal of Biological Chemistry
|
November 1, 2014
Differential light-induced responses in sectorial inherited retinal degeneration
Eva Ramon, Arnau Cordomí, Mònica Aguilà, et al.
Orphanet Journal of Rare Diseases
|
November 27, 2020
The genetic landscape of crystallins in congenital cataract
Vanita Berry, Alex Ionides, Nikolas Pontikos, et al.
Stem Cell Research
|
June 5, 2021
Transcription factor overexpression drives reliable differentiation of retinal pigment epithelium from human induced pluripotent stem cells
Tessa E Dewell, Ketrin Gjoni, Angela Z Liu, et al.
Investigative Ophthalmology & Visual Science
|
March 14, 2015
Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy
Gavin Arno, Sarah Hull, Anthony G Robson, et al.
Ophthalmology
|
June 15, 2005
X-linked cone dysfunction syndrome with myopia and protanopia
Michel Michaelides, Samantha Johnson, Keith Bradshaw, et al.
Investigative Ophthalmology & Visual Science
|
January 17, 2013
Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy
Michelle McClements, Wayne I L Davies, Michel Michaelides, et al.
Page
of 28