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TÃTULO: Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
AUTORES: 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; Frints, S; Wilcken, B; von der Haar, S; Meijers Heijboer, HE; Hofstede, F; Johnson, D; Kant, SG; Lion Francois, L; Pitelet, G; Longo, N; Maat Kievit, JA; Monteiro, JP; Munnich, A; Muntau, AC; Nassogne, MC; Osaka, H; Ounap, K; Pinard, JM; Quijano Roy, S; Poggenburg, I; Poplawski, N; Abdul Rahman, O; Ribes, A; Arias, A; Yaplito Lee, J; Schulze, A; Schwartz, CE; Schwenger, S; Soares, G; Sznajer, Y; Valayannopoulos, V; Van Esch, H; Waltz, S; Wamelink, MMC; Pouwels, PJW; Errami, A; van der Knaap, MS; Jakobs, C; Mancini, GM; Salomons, GS; ...Mais
PUBLICAÇÃO: 2013, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, NÚMERO: 7

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TÃTULO: Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database Full Text
AUTORES: 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;
PUBLICAÇÃO: 2011, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, NÚMERO: 1

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TÃTULO: NOVEL VARIATIONS AND PATHOGENIC MUTATIONS IN THE SLC6A8 GENE: VALIDATION OF PREDICTION TOOLS Full Text
AUTORES: Salomons, GS; Betsalel, OTB; Rosenberg, EH; Almeida, LS; Kleefstra, T; Schwartz, CE; Valayannopoulos, V; Abdul Rahman, O; Jakobs, C;
PUBLICAÇÃO: 2009, FONTE: 11th International Conference of Inborn Errors of Metabolism in MOLECULAR GENETICS AND METABOLISM, VOLUME: 98, NÚMERO: 1-2

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