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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 PDE6B
Samer Khateb, Marco Nassisi, Kinga M Bujakowska, et al.
Plos One
|
May 27, 2015
Genotypic and phenotypic characterization of P23H line 1 rat model
Elise 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 Disease
Marco 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 lines
Andréa 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 family
Mouna 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 blindness
Christina 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 blindness
Elise Orhan, Laurent Prézeau, Said El Shamieh, et al.
Human Mutation
|
April 17, 2018
MERTK mutation update in inherited retinal diseases
Isabelle 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 Cells
Marion Neuillé, Yan Cao, Romain Caplette, et al.
American Journal of Ophthalmology
|
December 20, 2025
Autosomal Recessive Bestrophinopathy - Phenotypic variability, Natural History, and Genotype-phenotype correlations
Lorenzo Bianco, Alessio Antropoli, Elise Boulanger-Scemama, et al.
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Search research articles
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Showing results (71-80 of 155) with videos related to
Sort By:
Page
of 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 PDE6B
Samer Khateb, Marco Nassisi, Kinga M Bujakowska, et al.
Plos One
|
May 27, 2015
Genotypic and phenotypic characterization of P23H line 1 rat model
Elise 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 Disease
Marco 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 lines
Andréa 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 family
Mouna 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 blindness
Christina 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 blindness
Elise Orhan, Laurent Prézeau, Said El Shamieh, et al.
Human Mutation
|
April 17, 2018
MERTK mutation update in inherited retinal diseases
Isabelle 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 Cells
Marion Neuillé, Yan Cao, Romain Caplette, et al.
American Journal of Ophthalmology
|
December 20, 2025
Autosomal Recessive Bestrophinopathy - Phenotypic variability, Natural History, and Genotype-phenotype correlations
Lorenzo Bianco, Alessio Antropoli, Elise Boulanger-Scemama, et al.
Page
of 16