Sabine Defoort

Lille, France

Last Updated: 09/26/2026

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Found 15 publications

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

Journal: JAMA ophthalmology

Published: December 04, 2025

Diagnostic value of visual evoked potential in toxic and nutritional optic neuropathies

Diagnostic value of visual evoked potential in toxic and nutritional optic neuropathies

Journal: Journal francais d'ophtalmologie

Published: June 26, 2025

Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.

Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.

Journal: Pediatric neurology

Published: July 06, 2022

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.

Journal: Molecular genetics and metabolism reports

Published: October 05, 2021

The ALGOVUE Clinical Trial: Effects of the Daily Consumption of Eggs Enriched with Lutein and Docosahexaenoic Acid on Plasma Composition and Macular Pigment Optical Density.

The ALGOVUE Clinical Trial: Effects of the Daily Consumption of Eggs Enriched with Lutein and Docosahexaenoic Acid on Plasma Composition and Macular Pigment Optical Density.

Journal: Nutrients

Published: July 23, 2021

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Journal: Brain communications

Published: May 10, 2021

Lateral elbow tendinopathy: surgery versus extracorporeal shock wave therapy.

Lateral elbow tendinopathy: surgery versus extracorporeal shock wave therapy.

Journal: Hand surgery & rehabilitation

Published: August 27, 2020

Categorization of the degree of urgency according to ophthalmology procedures or situations

Categorization of the degree of urgency according to ophthalmology procedures or situations

Journal: Journal francais d'ophtalmologie

Published: April 24, 2020

Neuro-ophthalmologic emergencies during this COVID-19 pandemic

Neuro-ophthalmologic emergencies during this COVID-19 pandemic

Journal: Journal francais d'ophtalmologie

Published: April 24, 2020

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 26, 2019

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Journal: Human mutation

Published: February 11, 2019

Donepezil increases contrast sensitivity for the detection of objects in scenes.

Donepezil increases contrast sensitivity for the detection of objects in scenes.

Journal: Behavioural brain research

Published: June 08, 2015

Showing 1-12 of 15

Last Updated: 09/26/2026