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Molecular Genetics and Metabolism
|
June 30, 2000
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
M M Sohocki, I Perrault, B P Leroy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
Frauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.
Human Mutation
|
August 29, 2015
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1
Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, et al.
Plos One
|
January 12, 2017
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2026
Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere)
Radha Ramachandran, Raphael Buttigieg, Florian Eichler, et al.
Translational Vision Science & Technology
|
August 27, 2019
Long-Term Follow-Up of Retinal Degenerations Associated With <i>LRAT</i> Mutations and Their Comparability to Phenotypes Associated With <i>RPE65</i> Mutations
Mays Talib, Mary J van Schooneveld, Roos J G van Duuren, et al.
Human Mutation
|
August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
Nicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
Scientific Reports
|
June 18, 2017
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
Delfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, et al.
Progress in Retinal and Eye Research
|
March 16, 2025
Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy
Ryan Purdy, Molly John, Alissa Bray, et al.
Ophthalmology Science
|
October 17, 2022
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
Artur V Cideciyan, Samuel G Jacobson, Allen C Ho, et al.
Page
of 44
Search research articles
Search
Showing results (341-350 of 438) with videos related to
Sort By:
Page
of 44
Molecular Genetics and Metabolism
|
June 30, 2000
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
M M Sohocki, I Perrault, B P Leroy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
Frauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.
Human Mutation
|
August 29, 2015
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1
Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, et al.
Plos One
|
January 12, 2017
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2026
Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere)
Radha Ramachandran, Raphael Buttigieg, Florian Eichler, et al.
Translational Vision Science & Technology
|
August 27, 2019
Long-Term Follow-Up of Retinal Degenerations Associated With <i>LRAT</i> Mutations and Their Comparability to Phenotypes Associated With <i>RPE65</i> Mutations
Mays Talib, Mary J van Schooneveld, Roos J G van Duuren, et al.
Human Mutation
|
August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
Nicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
Scientific Reports
|
June 18, 2017
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
Delfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, et al.
Progress in Retinal and Eye Research
|
March 16, 2025
Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy
Ryan Purdy, Molly John, Alissa Bray, et al.
Ophthalmology Science
|
October 17, 2022
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
Artur V Cideciyan, Samuel G Jacobson, Allen C Ho, et al.
Page
of 44