Recherche - Archive ouverte HAL Accéder directement au contenu

Filtrer vos résultats

4 Résultats
authFullName_s : Perrine Charles

Understanding the new BRD4 ‐related syndrome: Clinical and genomic delineation with an international cohort study

Guillaume Jouret , Solveig Heide , Arthur Sorlin , Laurence Faivre , Sandra Chantot-Bastaraud et al.
Clinical Genetics, 2022, 102 (2), pp.117-122. ⟨10.1111/cge.14141⟩
Article dans une revue inserm-03837963v1
Image document

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

Estelle Colin , Yannis Duffourd , Emilie Tisserant , Raissa Relator , Ange-Line Bruel et al.
Frontiers in Cell and Developmental Biology, 2022, 10, pp.1021785. ⟨10.3389/fcell.2022.1021785⟩
Article dans une revue hal-03886419v1

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

Martial Mallaret , Mathilde Renaud , Claire Redin , Nathalie Drouot , Jean Muller et al.
Journal of Neurology, 2016, 263 (7), pp.1314 - 1322. ⟨10.1007/s00415-016-8112-5⟩
Article dans une revue hal-01405178v1
Image document

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jeremie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria del Mar Muniz Moreno et al.
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Article dans une revue hal-03269307v1