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Showing results (121-130 of 158) with videos related to
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Human Molecular Genetics
|
March 19, 2020
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology
Jennifer L Sloan, Nathan P Achilly, Madeline L Arnold, et al.
Experimental Eye Research
|
March 26, 2026
Zfp503 haploinsufficiency causes optic nerve coloboma in mice
Jenna Wong-Fortunato, Benjamin Yang, Louise Lanoue, et al.
Ophthalmology
|
October 1, 2011
Ocular manifestations of trichothiodystrophy
Brian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Human Molecular Genetics
|
February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma
Chunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2022
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
Zelia Corradi, Manar Salameh, Mubeen Khan, et al.
Ophthalmic Epidemiology
|
December 21, 2020
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia
Jeremy M Schraw, Renata H Benjamin, Daryl A Scott, et al.
The Journal of Clinical Investigation
|
July 7, 2026
A peripheral subpopulation of retinal pigment epithelium resists oxidative damage through SERPINE3-mediated Caspase-1 inhibition
Huirong Li, Takerra Johnson-Stephenson, Vincent P Kunze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 27, 2017
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Thierry Vilboux, Daniel A Doherty, Ian A Glass, et al.
JCI Insight
|
January 25, 2019
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B
David R Adams, Supriya Menezes, Ramon Jauregui, et al.
Translational Vision Science & Technology
|
June 10, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure
Katie M Litts, Erica N Woertz, Niamh Wynne, et al.
Page
of 16
Search research articles
Search
Showing results (121-130 of 158) with videos related to
Sort By:
Page
of 16
Human Molecular Genetics
|
March 19, 2020
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology
Jennifer L Sloan, Nathan P Achilly, Madeline L Arnold, et al.
Experimental Eye Research
|
March 26, 2026
Zfp503 haploinsufficiency causes optic nerve coloboma in mice
Jenna Wong-Fortunato, Benjamin Yang, Louise Lanoue, et al.
Ophthalmology
|
October 1, 2011
Ocular manifestations of trichothiodystrophy
Brian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Human Molecular Genetics
|
February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma
Chunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2022
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
Zelia Corradi, Manar Salameh, Mubeen Khan, et al.
Ophthalmic Epidemiology
|
December 21, 2020
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia
Jeremy M Schraw, Renata H Benjamin, Daryl A Scott, et al.
The Journal of Clinical Investigation
|
July 7, 2026
A peripheral subpopulation of retinal pigment epithelium resists oxidative damage through SERPINE3-mediated Caspase-1 inhibition
Huirong Li, Takerra Johnson-Stephenson, Vincent P Kunze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 27, 2017
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Thierry Vilboux, Daniel A Doherty, Ian A Glass, et al.
JCI Insight
|
January 25, 2019
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B
David R Adams, Supriya Menezes, Ramon Jauregui, et al.
Translational Vision Science & Technology
|
June 10, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure
Katie M Litts, Erica N Woertz, Niamh Wynne, et al.
Page
of 16