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Susan Downes

Showing results (11-20 of 18) with videos related to

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Plos One|April 10, 2020
Phenogenon: Gene to phenotype associations for rare genetic diseasesNikolas Pontikos, Cian Murphy, Ismail Moghul, et al.
Ophthalmology. Retina|March 22, 2022
Long-term Retinal Morphology and Functional Associations in Treated Neovascular Age-Related Macular Degeneration: Findings from the Inhibition of VEGF in Age-Related Choroidal Neovascularisation TrialTunde Peto, Rebecca N Evans, Barnaby C Reeves, et al.
Health Technology Assessment (Winchester, England)|October 8, 2015
A randomised controlled trial to assess the clinical effectiveness and cost-effectiveness of alternative treatments to Inhibit VEGF in Age-related choroidal Neovascularisation (IVAN)Usha Chakravarthy, Simon P Harding, Chris A Rogers, et al.
Bioinformatics (Oxford, England)|March 24, 2017
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic dataNikolas Pontikos, Jing Yu, Ismail Moghul, et al.
Nature Communications|November 4, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionPaul W Chrystal, Nils J Lambacher, Lance P Doucette, et al.
American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology|May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disordersJames Liu, Yi He, Cara Lwin, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Plos One|April 10, 2020
Phenogenon: Gene to phenotype associations for rare genetic diseasesNikolas Pontikos, Cian Murphy, Ismail Moghul, et al.
Ophthalmology. Retina|March 22, 2022
Long-term Retinal Morphology and Functional Associations in Treated Neovascular Age-Related Macular Degeneration: Findings from the Inhibition of VEGF in Age-Related Choroidal Neovascularisation TrialTunde Peto, Rebecca N Evans, Barnaby C Reeves, et al.
Health Technology Assessment (Winchester, England)|October 8, 2015
A randomised controlled trial to assess the clinical effectiveness and cost-effectiveness of alternative treatments to Inhibit VEGF in Age-related choroidal Neovascularisation (IVAN)Usha Chakravarthy, Simon P Harding, Chris A Rogers, et al.
Bioinformatics (Oxford, England)|March 24, 2017
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic dataNikolas Pontikos, Jing Yu, Ismail Moghul, et al.
Nature Communications|November 4, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionPaul W Chrystal, Nils J Lambacher, Lance P Doucette, et al.
American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology|May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disordersJames Liu, Yi He, Cara Lwin, et al.
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