Adelaide Research & Scholarship
Browsing "Paediatrics publications" by Author Valayannopoulos, V.
Showing results 1 to 2 of 2
Preview | Issue Date | Title | Author(s) |
| 2011 | Characterization of novel SLC6A8 variants with the use of splice-site analysis tool and implementation of a newly developed LOVD database | Betsalel, O.; Rosenberg, E.; Almeida, L.; Kleefstra, T.; Schwartz, C.; Valayannopoulos, V.; Abdul-Rahman, O.; Poplawski, N.; Vilarinho, L.; Wolf, P.; den Dunnen, J.; Jakobs, C.; Salomons, G. |
| 2010 | LPIN1 gene mutations: A major cause of severe rhabdomyolysis in early childhood | Michot, C.; Hubert, L.; Brivet, M.; De Meirleir, L.; Valayannopoulos, V.; Muller-Felber, W.; Venkateswaran, R.; Ogier, H.; Desguerre, I.; Altuzarra, C.; Thompson, E.; Smitka, M.; Huebner, A.; Husson, M.; Horvath, R.; Chinnery, P.; Vaz, F.; Munnich, A.; Elpeleg, O.; Delahodde, A.; et al. |