Valérie Delague
Affiliations: | Aix Marseille University |
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| El-Bazzal L, Ghata A, Estève C, et al. (2022) Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H. Brain : a Journal of Neurology |
| Morel V, Campana-Salort E, Boyer A, et al. (2022) HINT1 Neuropathy: expanding the genotype and phenotype spectrum. Clinical Genetics |
| Rochdi K, Cerino M, Da Silva N, et al. (2022) Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder. Clinica Chimica Acta; International Journal of Clinical Chemistry. 524: 51-58 |
| Mégarbané A, Hana S, Mégarbané H, et al. (2021) Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome. Molecular Syndromology. 12: 342-350 |
| Megarbane A, Bizzari S, Deepthi A, et al. (2021) A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. Journal of Neuromuscular Diseases |
| Khaoula R, Cerino M, Da Silva N, et al. (2021) First characterization of congenital myasthenic syndrome type 5 in North Africa. Molecular Biology Reports |
| Nabouli I, Chikhaoui A, Othman H, et al. (2021) Case Report: Identification of Novel Variants in and Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype. Frontiers in Genetics. 12: 650639 |
| Salvi A, Skrypnyk C, Da Silva N, et al. (2021) A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clinical Genetics |
| Ben Haj Ali A, Messaoud O, Elouej S, et al. (2021) Gene Mutations in North African Fanconi Anemia Patients. Frontiers in Genetics. 12: 610050 |
| Mégarbané A, Hana S, El-Hayek S, et al. (2020) Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome. American Journal of Medical Genetics. Part A. 182: 1865-1872 |