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Human Mutation
|
March 25, 2010
EYS is a major gene for rod-cone dystrophies in France
Isabelle Audo, José-Alain Sahel, Saddek Mohand-Saïd, et al.
International Journal of Molecular Sciences
|
July 9, 2022
Retrospective Natural History Study of <i>RPGR</i>-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease
Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, et al.
Biomed Research International
|
February 19, 2015
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy
Said El Shamieh, Elise Boulanger-Scemama, Marie-Elise Lancelot, et al.
Molecular Vision
|
August 2, 2019
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma
Mouna Hadrami, Crystel Bonnet, Christina Zeitz, et al.
Genes
|
March 6, 2021
Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night Blindness
Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, et al.
International Journal of Molecular Sciences
|
October 3, 2019
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Elise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, et al.
Investigative Ophthalmology & Visual Science
|
April 28, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort
Vasily M Smirnov, Marco Nassisi, Saddek Mohand-Saïd, et al.
Progress in Retinal and Eye Research
|
August 17, 2025
Eyes shut homolog (EYS): Connecting molecule to disease
João Pedro Marques, Inês Santos Sousa, Daniela Patrício, et al.
Orphanet Journal of Rare Diseases
|
January 27, 2012
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, et al.
Biochimica Et Biophysica Acta
|
May 7, 2014
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2
Verena Burtscher, Klaus Schicker, Elena Novikova, et al.
Page
of 16
Search research articles
Search
Showing results (81-90 of 155) with videos related to
Sort By:
Page
of 16
Human Mutation
|
March 25, 2010
EYS is a major gene for rod-cone dystrophies in France
Isabelle Audo, José-Alain Sahel, Saddek Mohand-Saïd, et al.
International Journal of Molecular Sciences
|
July 9, 2022
Retrospective Natural History Study of <i>RPGR</i>-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease
Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, et al.
Biomed Research International
|
February 19, 2015
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy
Said El Shamieh, Elise Boulanger-Scemama, Marie-Elise Lancelot, et al.
Molecular Vision
|
August 2, 2019
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma
Mouna Hadrami, Crystel Bonnet, Christina Zeitz, et al.
Genes
|
March 6, 2021
Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night Blindness
Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, et al.
International Journal of Molecular Sciences
|
October 3, 2019
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Elise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, et al.
Investigative Ophthalmology & Visual Science
|
April 28, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort
Vasily M Smirnov, Marco Nassisi, Saddek Mohand-Saïd, et al.
Progress in Retinal and Eye Research
|
August 17, 2025
Eyes shut homolog (EYS): Connecting molecule to disease
João Pedro Marques, Inês Santos Sousa, Daniela Patrício, et al.
Orphanet Journal of Rare Diseases
|
January 27, 2012
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, et al.
Biochimica Et Biophysica Acta
|
May 7, 2014
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2
Verena Burtscher, Klaus Schicker, Elena Novikova, et al.
Page
of 16