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Ophthalmic Genetics
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May 5, 2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the <i>C1QTNF5</i> gene
Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, et al.
Retina (Philadelphia, Pa.)
|
February 17, 2021
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review
Bart P Leroy, David G Birch, Jacque L Duncan, et al.
Retina (Philadelphia, Pa.)
|
February 2, 2011
Discordance for retinitis pigmentosa in two monozygotic twin pairs
Lieve V Berghmans, Regina Halfeld Furtado de Mendonça, Frauke Coppieters, et al.
Genetics
|
October 1, 1995
Molecular mapping of wheat: major genes and rearrangements in homoeologous groups 4, 5, and 7
J C Nelson, M E Sorrells, A E Van Deynze, et al.
Retina (Philadelphia, Pa.)
|
February 18, 2025
INHERITED RETINAL DISEASE GENE PANEL IN POSTERIOR OR PANUVEITIS WITH DYSTROPHIC FEATURES
Stéphane Abramowicz, Audrey Meunier, Dafina Draganova, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology
|
August 24, 2013
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
Laurence Campens, Olivier M Vanakker, Bram Trachet, et al.
Biomedical Chromatography : BMC
|
October 30, 2016
LR12-peptide quantitation in whole blood by RP-HPLC and intrinsic fluorescence detection: Validation and pharmacokinetic study
M Parent, A Boudier, P Maincent, et al.
Scientific Reports
|
January 9, 2021
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Ine Strubbe, Caroline Van Cauwenbergh, Julie De Zaeytijd, et al.
Biomolecules
|
January 23, 2024
Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study
M Dominik Fischer, Francesca Simonelli, Jayashree Sahni, et al.
Ophthalmic Research
|
September 14, 2022
Gene Therapy for Inherited Retinal Disease: Long-Term Durability of Effect
Bart P Leroy, M Dominik Fischer, John G Flannery, et al.
Page
of 44
Search research articles
Search
Showing results (291-300 of 438) with videos related to
Sort By:
Page
of 44
Ophthalmic Genetics
|
May 5, 2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the <i>C1QTNF5</i> gene
Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, et al.
Retina (Philadelphia, Pa.)
|
February 17, 2021
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review
Bart P Leroy, David G Birch, Jacque L Duncan, et al.
Retina (Philadelphia, Pa.)
|
February 2, 2011
Discordance for retinitis pigmentosa in two monozygotic twin pairs
Lieve V Berghmans, Regina Halfeld Furtado de Mendonça, Frauke Coppieters, et al.
Genetics
|
October 1, 1995
Molecular mapping of wheat: major genes and rearrangements in homoeologous groups 4, 5, and 7
J C Nelson, M E Sorrells, A E Van Deynze, et al.
Retina (Philadelphia, Pa.)
|
February 18, 2025
INHERITED RETINAL DISEASE GENE PANEL IN POSTERIOR OR PANUVEITIS WITH DYSTROPHIC FEATURES
Stéphane Abramowicz, Audrey Meunier, Dafina Draganova, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology
|
August 24, 2013
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
Laurence Campens, Olivier M Vanakker, Bram Trachet, et al.
Biomedical Chromatography : BMC
|
October 30, 2016
LR12-peptide quantitation in whole blood by RP-HPLC and intrinsic fluorescence detection: Validation and pharmacokinetic study
M Parent, A Boudier, P Maincent, et al.
Scientific Reports
|
January 9, 2021
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Ine Strubbe, Caroline Van Cauwenbergh, Julie De Zaeytijd, et al.
Biomolecules
|
January 23, 2024
Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study
M Dominik Fischer, Francesca Simonelli, Jayashree Sahni, et al.
Ophthalmic Research
|
September 14, 2022
Gene Therapy for Inherited Retinal Disease: Long-Term Durability of Effect
Bart P Leroy, M Dominik Fischer, John G Flannery, et al.
Page
of 44