Présentation
Publications scientifiques
-
2025Journal (source)DevelopmentDifferential contribution of P73+ Cajal-Retzius cells and Reelin to cortical ...
-
2024Journal (source)J Clin Invest
De novo monoallelic Reelin missense variants cause dominant neuronal migratio...
-
2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
-
2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
-
2020Journal (source)Am. J. Hum. Genet.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
-
2019Journal (source)Brain
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with p...
-
2018Journal (source)Eur J Med Genet
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr...
-
2018Journal (source)Brain
De novo mutation screening in childhood-onset cerebellar atrophy identifies g...
-
Journal (source)Orphanet journal of rare diseases
Next generation phenotyping using narrative reports in a rare disease clinica...
-
Journal (source)Journal of biomedical informatics
Finding patients using similarity measures in a rare diseases-oriented clinic...
-
Journal (source)J Neuropathol Exp Neurol
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela...
-
2017Journal (source)Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
-
2016Journal (source)Am. J. Hum. Genet.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ...
-
2015Journal (source)Diabetes Care
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patie...