Browsing by Author Betsalel, O.T.

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Issue DateTitleAuthor(s)TypeAccess Type
2011Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD databaseBetsalel, 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.articleopenAccess
2012Detection of variants in SLC6A8 and functional analysis of unclassified missense variantsBetsalel, O.T.; Pop, A.; Rosenberg, E.H.; Fernandez-Ojeda, M.; Creatine Transporter Research Group; Jakobs, C.; Salomons, G.S.articlerestrictedAccess
Jul-2013Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyvan de Kamp, J.M.; Betsalel, O.T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Grünewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.; Hamel, B.; Kleefstra, T.; Yntema, H.; Campistol, J.; Vilaseca, M.A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M.; Frints, S.; Wilcken, B.; von der Haar, S.; Meijers-Heijboer, H.E.; Hofstede, F.; Johnson, D.; Kant, S.G.; Lion-Francois, L.; Pitelet, G.; Longo, N.; Maat-Kievit, J.A.; Monteiro, J.P.; Munnich, A.; Muntau, A.C.; Nassogne, M.C.; Osaka, H.; Ounap, K.; Pinard, J.M.; Quijano-Roy, S.; Poggenburg, I.; Poplawski, N.; Abdul-Rahman, O.; Ribes, A.; Arias, A.; Yaplito-Lee, J.; Schulze, A.; Schwartz, C.E.; Schwenger, S.; Soares, G.; Sznajer, Y.; Valayannopoulos, V.; Van Esch, H.; Waltz, S.; Wamelink, M.M.; Pouwels, P.J.; Errami, A.; van der Knaap, M.S.; Jakobs, C.; Mancini, G.M.; Salomons, G.S.articleembargoedAccess