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Elise Heon

Showing results (81-90 of 87) with videos related to

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Translational Vision Science & Technology|August 25, 2020
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano SymposiumDebra A Thompson, Alessandro Iannaccone, Robin R Ali, et al.
Investigative Ophthalmology & Visual Science|May 14, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 PatientsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
The British Journal of Ophthalmology|July 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyAustin D Igelman, Elizabeth White, Alaa Tayyib, et al.
NPJ Genomic Medicine|April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypesRyan E Schmidt, Amy E Pohodich, David Birch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Pageof 9

Showing results (81-90 of 87) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 87 results.
Translational Vision Science & Technology|August 25, 2020
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano SymposiumDebra A Thompson, Alessandro Iannaccone, Robin R Ali, et al.
Investigative Ophthalmology & Visual Science|May 14, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 PatientsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
The British Journal of Ophthalmology|July 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyAustin D Igelman, Elizabeth White, Alaa Tayyib, et al.
NPJ Genomic Medicine|April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypesRyan E Schmidt, Amy E Pohodich, David Birch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Pageof 9