Adelaide Research & Scholarship
Browsing "Paediatrics publications" by Author Lacombe, D.
Showing results 1 to 2 of 2
Preview | Issue Date | Title | Author(s) |
| 2020 | Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 mendelian neurodevelopmental disorders | Aref-Eshghi, E.; Kerkhof, J.; Pedro, V.P.; Barat-Houari, M.; Ruiz-Pallares, N.; Andrau, J.C.; Lacombe, D.; Van-Gils, J.; Fergelot, P.; Dubourg, C.; Cormier-Daire, V.; Rondeau, S.; Lecoquierre, F.; Saugier-Veber, P.; Nicolas, G.; Lesca, G.; Chatron, N.; Sanlaville, D.; Vitobello, A.; Faivre, L.; et al. |
| 2009 | Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy | Lugtenberg, D.; Kleefstra, T.; Oudakker, A.; Nillesen, W.; Yntema, H.; Tzschach, A.; Raynaud, M.; Rating, D.; Journel, H.; Chelly, J.; Goizet, C.; Lacombe, D.; Pedespan, J.; Echenne, B.; Tariverdian, G.; O'Rourke, D.; King, M.; Green, A.; Van Kogelenberg, M.; Van Esch, H.; et al. |