CHU de Caen Normandie

Hospital


Location: Caen, France (FR) FR

ISNI: 0000000404720160

ROR: https://ror.org/027arzy69

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01560-8) (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article, Erratum Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) (2020) Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, et al. Journal article