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Elise Heon

Showing results (61-70 of 87) with videos related to

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The Journal of Clinical Investigation|March 31, 2026
Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamicsYang Wu, Erika Tavares, Binrun Liang, et al.
Human Molecular Genetics|November 2, 2021
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotypeLaurence M Occelli, Anahita Daruwalla, Samantha R De Silva, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 24, 2008
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kineticsArtur V Cideciyan, Tomas S Aleman, Sanford L Boye, et al.
Human Mutation|March 10, 2022
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A studyRobert B Hufnagel, Wendi Liang, Jacque L Duncan, et al.
JAMA Ophthalmology|May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal DegenerationCristy A Ku, Sarah Hull, Gavin Arno, et al.
Frontiers in Physiology|June 25, 2019
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and HumansEmilia Boiadjieva Knöpfel, Clara Vilches, Simone M R Camargo, et al.
Nature Genetics|July 31, 2012
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisPei-Wen Chiang, Juan Wang, Yang Chen, et al.
Translational Vision Science & Technology|November 2, 2020
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at BaselineDavid G Birch, Peiyao Cheng, Jacque L Duncan, et al.
American Journal of Ophthalmology|March 8, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity" [Am J Ophthalmol 2020;219:87-100]Jacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
American Journal of Ophthalmology|August 3, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity." Am J Ophthalmol. 2020; 219:87-100Jacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
Pageof 9

Showing results (61-70 of 87) with videos related to

Sort By:
Pageof 9
The Journal of Clinical Investigation|March 31, 2026
Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamicsYang Wu, Erika Tavares, Binrun Liang, et al.
Human Molecular Genetics|November 2, 2021
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotypeLaurence M Occelli, Anahita Daruwalla, Samantha R De Silva, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 24, 2008
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kineticsArtur V Cideciyan, Tomas S Aleman, Sanford L Boye, et al.
Human Mutation|March 10, 2022
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A studyRobert B Hufnagel, Wendi Liang, Jacque L Duncan, et al.
JAMA Ophthalmology|May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal DegenerationCristy A Ku, Sarah Hull, Gavin Arno, et al.
Frontiers in Physiology|June 25, 2019
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and HumansEmilia Boiadjieva Knöpfel, Clara Vilches, Simone M R Camargo, et al.
Nature Genetics|July 31, 2012
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisPei-Wen Chiang, Juan Wang, Yang Chen, et al.
Translational Vision Science & Technology|November 2, 2020
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at BaselineDavid G Birch, Peiyao Cheng, Jacque L Duncan, et al.
American Journal of Ophthalmology|March 8, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity" [Am J Ophthalmol 2020;219:87-100]Jacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
American Journal of Ophthalmology|August 3, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity." Am J Ophthalmol. 2020; 219:87-100Jacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
Pageof 9