Laurent Villard, Ph.D
Affiliations: | INSERM U910 | Aix-Marseille University |
Google:
"Laurent Villard"Mean distance: 35622
Parents
Sign in to add mentor| Michel Fontes | grad student | 1995 | Université d'Aix-Marseille II. Faculté des sciences | |
| (Cartographie physique et transcriptionnelle de la sous-bande Xq13. 3 du chromosome X humain en relation avec les maladies héréditaires) | ||||
Children
Sign in to add trainee| Marie-Reine Haddad | grad student | INSERM U910 | |
| Bilal El-Waly | grad student | 2009- | INSERM U910 |
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| Engel C, Valence S, Delplancq G, et al. (2023) BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European Journal of Human Genetics : Ejhg |
| Abaji M, Mignon-Ravix C, Gorokhova S, et al. (2023) TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype. Journal of Medical Genetics |
| Leitão E, Schröder C, Parenti I, et al. (2022) Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications. 13: 6570 |
| Felix MS, Borloz E, Metwally K, et al. (2021) Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in Mice. Pharmaceutics. 13 |
| Borloz E, Villard L, Roux JC. (2021) Rett syndrome: think outside the (skull) box. Faculty Reviews. 10: 59 |
| Ehinger Y, Matagne V, Cunin V, et al. (2021) Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome. International Journal of Molecular Sciences. 22 |
| Whalen S, Shaw M, Mignot C, et al. (2021) Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European Journal of Human Genetics : Ejhg |
| Matagne V, Borloz E, Ehinger Y, et al. (2020) Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome. Neurobiology of Disease. 149: 105235 |
| Cabasson S, Van-Gils J, Villéga F, et al. (2020) Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society |
| Trivisano M, Ferretti A, Bebin E, et al. (2020) Defining the phenotype of FHF1 developmental and epileptic encephalopathy. Epilepsia |