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Stem Cell Research
|
October 17, 2017
Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene
Angélique Terray, Amélie Slembrouck, Céline Nanteau, et al.
Ophthalmic Genetics
|
May 8, 2019
Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness
Aurore Tourville, Christelle Michiels, Christel Condroyer, et al.
American Journal of Ophthalmology
|
June 30, 2024
RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes
Lorenzo Bianco, Alessio Antropoli, Amine Benadji, et al.
Investigative Ophthalmology & Visual Science
|
May 20, 2008
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB
Christina Zeitz, Alecia K Gross, Dorothee Leifert, et al.
Human Mutation
|
March 18, 2011
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort
Isabelle Audo, Marie-Elise Lancelot, Saddek Mohand-Saïd, et al.
Molecular Vision
|
March 31, 2017
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family
Miguel de Sousa Dias, Christian P Hamel, Isabelle Meunier, et al.
Genes
|
January 1, 2020
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes
Lama Jaffal, Wissam H Joumaa, Alexandre Assi, et al.
Eye (London, England)
|
May 9, 2020
Impact of the COVID-19 lockdown on basic science research in ophthalmology: the experience of a highly specialized research facility in France
Marco Nassisi, Isabelle Audo, Christina Zeitz, et al.
Biomed Research International
|
February 19, 2015
Cone dystrophy in patient with homozygous RP1L1 mutation
Sachiko Kikuchi, Shuhei Kameya, Kiyoko Gocho, et al.
Ophthalmology
|
April 7, 2024
Extensive Macular Atrophy with Pseudodrusen-like appearance: Progression Kinetics and Late-Stage Findings
Alessio Antropoli, Lorenzo Bianco, Christel Condroyer, et al.
Page
of 16
Search research articles
Search
Showing results (31-40 of 155) with videos related to
Sort By:
Page
of 16
Stem Cell Research
|
October 17, 2017
Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene
Angélique Terray, Amélie Slembrouck, Céline Nanteau, et al.
Ophthalmic Genetics
|
May 8, 2019
Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness
Aurore Tourville, Christelle Michiels, Christel Condroyer, et al.
American Journal of Ophthalmology
|
June 30, 2024
RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes
Lorenzo Bianco, Alessio Antropoli, Amine Benadji, et al.
Investigative Ophthalmology & Visual Science
|
May 20, 2008
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB
Christina Zeitz, Alecia K Gross, Dorothee Leifert, et al.
Human Mutation
|
March 18, 2011
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort
Isabelle Audo, Marie-Elise Lancelot, Saddek Mohand-Saïd, et al.
Molecular Vision
|
March 31, 2017
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family
Miguel de Sousa Dias, Christian P Hamel, Isabelle Meunier, et al.
Genes
|
January 1, 2020
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes
Lama Jaffal, Wissam H Joumaa, Alexandre Assi, et al.
Eye (London, England)
|
May 9, 2020
Impact of the COVID-19 lockdown on basic science research in ophthalmology: the experience of a highly specialized research facility in France
Marco Nassisi, Isabelle Audo, Christina Zeitz, et al.
Biomed Research International
|
February 19, 2015
Cone dystrophy in patient with homozygous RP1L1 mutation
Sachiko Kikuchi, Shuhei Kameya, Kiyoko Gocho, et al.
Ophthalmology
|
April 7, 2024
Extensive Macular Atrophy with Pseudodrusen-like appearance: Progression Kinetics and Late-Stage Findings
Alessio Antropoli, Lorenzo Bianco, Christel Condroyer, et al.
Page
of 16