Recherche - Archive ouverte HAL Accéder directement au contenu

Filtrer vos résultats

6 Résultats
Auteur : personID (entier) : 925163

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet , Laurence Faivre , Jeanne Amiel , Mathilde Nizon , Renaud Touraine et al.
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Article dans une revue hal-02064139v1
Image document

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Chloé Angelini , Julien van Gils , Antoine Bigourdan , Pierre-Simon Jouk , Didier Lacombe et al.
European Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.011⟩
Article dans une revue hal-01952641v1

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stephanie Valence , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud et al.
Genetics in Medicine, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩
Article dans une revue hal-01932802v1

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

Cecilia Marelli , Foudil Lamari , Dominique Rainteau , Alexandre Lafourcade , Guillaume Banneau et al.
Brain - A Journal of Neurology , 2018, 141 (1), pp.72 - 84. ⟨10.1093/brain/awx297⟩
Article dans une revue hal-01737580v1
Image document

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Article dans une revue hal-01670135v1
Image document

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

Natacha Lehman , Anne-Claire Mazery , Antoine Visier , Clarisse Baumann , Dominique Lachesnais et al.
Clinical Genetics, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
Article dans une revue hal-01560204v1