Résultat de recherche

Innov4-ePiK : Approches diagnostiques et thérapeutiques innovantes dans...

L'Institut Imagine a 10 ans !

De novo monoallelic Reelin missense variants act in a dominant-negative...

Rapport annuel 2023

Teddy Riner, parrain de l'Institut Imagine depuis 10 ans

La première déficience héréditaire complète en TNF à l’origine...

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B...

Donner en confiance

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset...

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital...

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1...

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic...

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated...

Description of Two Siblings with Apparently Severe CEP290 Mutations and...

Basal exon skipping and nonsense-associated altered splicing allows bypassing...

Whole-genome sequencing in patients with ciliopathies uncovers a novel...

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Le point sur la recherche sur les épilepsies

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary...

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release...