|
Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Jakobs, C.
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) | | 2011 | Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database | Betsalel, O.T.; Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Schwartz, C.E.; Valayannopoulos, V.; Abdul-Rahman, O.; Poplawski, N.; Vilarinho, L.; Wolf, P.; den Dunnen, J.T.; Jakobs, C.; Salomons, G.S. |
| 2012 | Detection of variants in SLC6A8 and functional analysis of unclassified missense variants | Betsalel, O.T.; Pop, A.; Rosenberg, E.H.; Fernandez-Ojeda, M.; Creatine Transporter Research Group; Jakobs, C.; Salomons, G.S. |
Showing results 1 to 2 of 2
|
