Karine POIRIER | Institut Imagine

Presentation

Karine POIRIER

Génétique des maladies rares ophtalmologiques, auditives et mitochondriales

Contact :

karine.poirier@institutimagine.org

About

Scientific Publications

Publications

2024

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorde...
2024

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated w...
2023

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorde...
2019

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability...
2017

Mutations in the novel gene FOPV are associated with familial autosomal domin...
2017

CSNK2B splice site mutations in patients cause intellectual disability with o...
Journal (source)

J Neuropathol Exp Neurol

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela...