Kolexia
Defoort-Dhellemmes Sabine
Ophtalmologie
Hôpital Roger Salengro
Lille, France
118 Activités
1 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Dégénérescence maculaire Rétinopathies Dystrophies rétiniennes Atrophie Prédisposition génétique à une maladie Cécité Maladies héréditaires de l'oeil Rétinite pigmentaire Myopie

Industries

Chauvin
3 collaboration(s)
Dernière en 2023
Thea
1 collaboration(s)
Dernière en 2022
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

PACS1-related syndrome: three cases with colobomas further delineating the phenotype
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Mutational Spectrum, Ocular and Olfactory Phenotypes of -Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
Genes   30 mars 2023
Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.
Pediatric neurology   19 novembre 2022
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with Variants.
International journal of molecular sciences   13 avril 2022
A novel variant associated with an atypical moderate and late-onset LCHAD deficiency.
Molecular genetics and metabolism reports   15 mars 2022
Les maladies rares de la rétine et du nerf optique : un après-midi d’informations pour les patients
Youtube @ Institut de la vision   19 février 2022
-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor Isoforms.
International journal of molecular sciences   23 novembre 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.
Nutrients   24 septembre 2021
Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051G>A mtDNA Mutation.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society   22 septembre 2021
Characterization of SSBP1-related optic atrophy and foveopathy.
Scientific reports   21 septembre 2021