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Julie Jacob

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Research Square|May 19, 2025

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.

Investigative Ophthalmology & Visual Science|September 23, 2025

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.

American Journal of Human Genetics|March 13, 2025

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, et al.

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Search research articles

Showing results (41-50 of 43) with videos related to

Sort By:

Pageof 5

You have reached the last page of results.This site can display upto 43 results.

Research Square|May 19, 2025

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.

Investigative Ophthalmology & Visual Science|September 23, 2025

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.

American Journal of Human Genetics|March 13, 2025

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, et al.

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