O. T. B. Betsalel
AuthID: R-00F-BP6
1
TITLE: Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
AUTHORS: van de Kamp, JM; Betsalel, OT; Mercimek Mahmutoglu, S; Abulhoul, L; Gruenewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, MA; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; ...More
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 7
AUTHORS: van de Kamp, JM; Betsalel, OT; Mercimek Mahmutoglu, S; Abulhoul, L; Gruenewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, MA; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; ...More
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 7
2
TITLE: Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database Full Text
AUTHORS: Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons;
PUBLISHED: 2011, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, ISSUE: 1
AUTHORS: Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons;
PUBLISHED: 2011, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, ISSUE: 1
3
TITLE: NOVEL VARIATIONS AND PATHOGENIC MUTATIONS IN THE SLC6A8 GENE: VALIDATION OF PREDICTION TOOLS Full Text
AUTHORS: Salomons, GS; Betsalel, OTB; Rosenberg, EH; Almeida, LS; Kleefstra, T; Schwartz, CE; Valayannopoulos, V; Abdul Rahman, O; Jakobs, C;
PUBLISHED: 2009, SOURCE: 11th International Conference of Inborn Errors of Metabolism in MOLECULAR GENETICS AND METABOLISM, VOLUME: 98, ISSUE: 1-2
AUTHORS: Salomons, GS; Betsalel, OTB; Rosenberg, EH; Almeida, LS; Kleefstra, T; Schwartz, CE; Valayannopoulos, V; Abdul Rahman, O; Jakobs, C;
PUBLISHED: 2009, SOURCE: 11th International Conference of Inborn Errors of Metabolism in MOLECULAR GENETICS AND METABOLISM, VOLUME: 98, ISSUE: 1-2
INDEXED IN: WOS