Adelaide Research & Scholarship
Browsing "Medical Sciences publications" by Author Valence, S.
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Preview | Issue Date | Title | Author(s) |
| 2018 | De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias | Helbig, K.L.; Lauerer, R.J.; Bahr, J.C.; Souza, I.A.; Myers, C.T.; Uysal, B.; Schwarz, N.; Gandini, M.A.; Huang, S.; Keren, B.; Mignot, C.; Afenjar, A.; Billette de Villemeur, T.; Héron, D.; Nava, C.; Valence, S.; Buratti, J.; Fagerberg, C.R.; Soerensen, K.P.; Kibaek, M.; et al. |