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Isabelle Audo

Showing results (231-240 of 234) with videos related to

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Human Mutation|March 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disordersChristina Zeitz, Christelle Michiels, Marion Neuillé, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasisZoéline Mars, Andrea Zanetti, Karolina Kaminska, et al.
Nature Genetics|December 23, 2015
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variantsLars G Fritsche, Wilmar Igl, Jessica N Cooke Bailey, et al.
Nature Genetics|March 5, 2013
Seven new loci associated with age-related macular degenerationLars G Fritsche, Wei Chen, Matthew Schu, et al.
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Showing results (231-240 of 234) with videos related to

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Pageof 24
You have reached the last page of results.This site can display upto 234 results.
Human Mutation|March 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disordersChristina Zeitz, Christelle Michiels, Marion Neuillé, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasisZoéline Mars, Andrea Zanetti, Karolina Kaminska, et al.
Nature Genetics|December 23, 2015
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variantsLars G Fritsche, Wilmar Igl, Jessica N Cooke Bailey, et al.
Nature Genetics|March 5, 2013
Seven new loci associated with age-related macular degenerationLars G Fritsche, Wei Chen, Matthew Schu, et al.
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