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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

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Rebecca Procopio

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Retina (Philadelphia, Pa.)|October 25, 2021

Inherited Retinal Disease Panels-Caveat Emptor-Truly Know Your Inherited Retinal Disease PanelJose S Pulido, Rebecca Procopio, Hiram J Davila, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023

LHX2 haploinsufficiency causes a variable neurodevelopmental disorderCosima M Schmid, Anne Gregor, Gregory Costain, et al.

Investigative Ophthalmology & Visual Science|May 14, 2024

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 PatientsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.

European Journal of Human Genetics : EJHG|March 5, 2025

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.

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Search research articles

Showing results (11-20 of 14) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 14 results.

Retina (Philadelphia, Pa.)|October 25, 2021

Inherited Retinal Disease Panels-Caveat Emptor-Truly Know Your Inherited Retinal Disease PanelJose S Pulido, Rebecca Procopio, Hiram J Davila, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023

LHX2 haploinsufficiency causes a variable neurodevelopmental disorderCosima M Schmid, Anne Gregor, Gregory Costain, et al.

Investigative Ophthalmology & Visual Science|May 14, 2024

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 PatientsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.

European Journal of Human Genetics : EJHG|March 5, 2025

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.

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