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Christina Zeitz

Showing results (71-80 of 155) with videos related to

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JAMA Ophthalmology|April 19, 2019
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6BSamer Khateb, Marco Nassisi, Kinga M Bujakowska, et al.
Plos One|May 27, 2015
Genotypic and phenotypic characterization of P23H line 1 rat modelElise Orhan, Deniz Dalkara, Marion Neuillé, et al.
International Journal of Molecular Sciences|October 17, 2019
Prevalence of <i>ABCA4</i> Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt DiseaseMarco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, et al.
Stem Cell Research|September 18, 2024
Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC linesAndréa Amprou, Tasnim Ben Yacoub, Camille Letellier, et al.
European Journal of Ophthalmology|October 31, 2018
A novel missense mutation of <i>GJA8</i> causes congenital cataract in a large Mauritanian familyMouna Hadrami, Crystel Bonnet, Fatimetou Veten, et al.
American Journal of Human Genetics|September 9, 2006
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessChristina Zeitz, Barbara Kloeckener-Gruissem, Ursula Forster, et al.
Investigative Ophthalmology & Visual Science|November 14, 2013
Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindnessElise Orhan, Laurent Prézeau, Said El Shamieh, et al.
Human Mutation|April 17, 2018
MERTK mutation update in inherited retinal diseasesIsabelle Audo, Saddek Mohand-Said, Elise Boulanger-Scemama, et al.
Investigative Ophthalmology & Visual Science|March 24, 2017
LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar CellsMarion Neuillé, Yan Cao, Romain Caplette, et al.
American Journal of Ophthalmology|December 20, 2025
Autosomal Recessive Bestrophinopathy - Phenotypic variability, Natural History, and Genotype-phenotype correlationsLorenzo Bianco, Alessio Antropoli, Elise Boulanger-Scemama, et al.
Pageof 16

Showing results (71-80 of 155) with videos related to

Sort By:
Pageof 16
JAMA Ophthalmology|April 19, 2019
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6BSamer Khateb, Marco Nassisi, Kinga M Bujakowska, et al.
Plos One|May 27, 2015
Genotypic and phenotypic characterization of P23H line 1 rat modelElise Orhan, Deniz Dalkara, Marion Neuillé, et al.
International Journal of Molecular Sciences|October 17, 2019
Prevalence of <i>ABCA4</i> Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt DiseaseMarco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, et al.
Stem Cell Research|September 18, 2024
Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC linesAndréa Amprou, Tasnim Ben Yacoub, Camille Letellier, et al.
European Journal of Ophthalmology|October 31, 2018
A novel missense mutation of <i>GJA8</i> causes congenital cataract in a large Mauritanian familyMouna Hadrami, Crystel Bonnet, Fatimetou Veten, et al.
American Journal of Human Genetics|September 9, 2006
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessChristina Zeitz, Barbara Kloeckener-Gruissem, Ursula Forster, et al.
Investigative Ophthalmology & Visual Science|November 14, 2013
Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindnessElise Orhan, Laurent Prézeau, Said El Shamieh, et al.
Human Mutation|April 17, 2018
MERTK mutation update in inherited retinal diseasesIsabelle Audo, Saddek Mohand-Said, Elise Boulanger-Scemama, et al.
Investigative Ophthalmology & Visual Science|March 24, 2017
LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar CellsMarion Neuillé, Yan Cao, Romain Caplette, et al.
American Journal of Ophthalmology|December 20, 2025
Autosomal Recessive Bestrophinopathy - Phenotypic variability, Natural History, and Genotype-phenotype correlationsLorenzo Bianco, Alessio Antropoli, Elise Boulanger-Scemama, et al.
Pageof 16