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Isabelle Meunier

Showing results (111-120 of 148) with videos related to

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Human Molecular Genetics|January 9, 2016
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epitheliumIsabelle Meunier, Guy Lenaers, Béatrice Bocquet, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Scientific Reports|September 8, 2016
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 geneIsabelle Meunier, Béatrice Bocquet, Gilles Labesse, et al.
Progress in Retinal and Eye Research|November 27, 2024
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degenerationAlessio Antropoli, Lorenzo Bianco, Francesco Romano, et al.
Brain : a Journal of Neurology|March 13, 2018
Reply: The expanding neurological phenotype of DNM1L-related disordersSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
American Journal of Human Genetics|August 4, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationFrauke Coppieters, Giulia Ascari, Katharina Dannhausen, et al.
Journal of Medical Genetics|August 21, 2020
Pathogenic variants in <i>IMPG1</i> cause autosomal dominant and autosomal recessive retinitis pigmentosaGuillaume Olivier, Marta Corton, Daniela Intartaglia, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
The British Journal of Ophthalmology|October 10, 2018
Macular spatial distribution of preserved autofluorescence in patients with choroideremiaAmir H Hariri, Michael S Ip, Aniz Girach, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Pageof 15

Showing results (111-120 of 148) with videos related to

Sort By:
Pageof 15
Human Molecular Genetics|January 9, 2016
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epitheliumIsabelle Meunier, Guy Lenaers, Béatrice Bocquet, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Scientific Reports|September 8, 2016
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 geneIsabelle Meunier, Béatrice Bocquet, Gilles Labesse, et al.
Progress in Retinal and Eye Research|November 27, 2024
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degenerationAlessio Antropoli, Lorenzo Bianco, Francesco Romano, et al.
Brain : a Journal of Neurology|March 13, 2018
Reply: The expanding neurological phenotype of DNM1L-related disordersSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
American Journal of Human Genetics|August 4, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationFrauke Coppieters, Giulia Ascari, Katharina Dannhausen, et al.
Journal of Medical Genetics|August 21, 2020
Pathogenic variants in <i>IMPG1</i> cause autosomal dominant and autosomal recessive retinitis pigmentosaGuillaume Olivier, Marta Corton, Daniela Intartaglia, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
The British Journal of Ophthalmology|October 10, 2018
Macular spatial distribution of preserved autofluorescence in patients with choroideremiaAmir H Hariri, Michael S Ip, Aniz Girach, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Pageof 15