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Isabelle Audo

Showing results (221-230 of 234) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
Genotyping microarray for CSNB-associated genesChristina Zeitz, Stephan Labs, Birgit Lorenz, et al.
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.
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.
European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.
Human Mutation|April 13, 2021
CNGB1-related rod-cone dystrophy: A mutation review and updateMarco Nassisi, Vasily M Smirnov, Cyntia Solis Hernandez, et al.
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.
Nature Communications|November 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairmentAndrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, et al.
American Journal of Human Genetics|February 14, 2012
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Kinga Bujakowska, Elise Orhan, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
Pageof 24

Showing results (221-230 of 234) with videos related to

Sort By:
Pageof 24
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
Genotyping microarray for CSNB-associated genesChristina Zeitz, Stephan Labs, Birgit Lorenz, et al.
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.
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.
European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.
Human Mutation|April 13, 2021
CNGB1-related rod-cone dystrophy: A mutation review and updateMarco Nassisi, Vasily M Smirnov, Cyntia Solis Hernandez, et al.
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.
Nature Communications|November 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairmentAndrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, et al.
American Journal of Human Genetics|February 14, 2012
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Kinga Bujakowska, Elise Orhan, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
Pageof 24