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Isabelle Meunier

Showing results (131-140 of 148) with videos related to

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Ophthalmology|June 21, 2016
Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical TrialAymeric Douillard, Marie-Christine Picot, Cécile Delcourt, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Scientific Reports|May 3, 2018
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patientsAymeric Douillard, Marie-Christine Picot, Cécile Delcourt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Brain Communications|September 1, 2021
Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.
Investigative Ophthalmology & Visual Science|February 21, 2025
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology|May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disordersJames Liu, Yi He, Cara Lwin, 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.
Pageof 15

Showing results (131-140 of 148) with videos related to

Sort By:
Pageof 15
Ophthalmology|June 21, 2016
Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical TrialAymeric Douillard, Marie-Christine Picot, Cécile Delcourt, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Scientific Reports|May 3, 2018
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patientsAymeric Douillard, Marie-Christine Picot, Cécile Delcourt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Brain Communications|September 1, 2021
Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.
Investigative Ophthalmology & Visual Science|February 21, 2025
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology|May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disordersJames Liu, Yi He, Cara Lwin, 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.
Pageof 15