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Screening for CLCN5 mutation in renal calcium stone formers patients von Maria Alice P. Rebelo, Vera Tostes, Nordeval C. Araújo, Bruno F. Botelho, William B. Gugginio, Sabrina V. Martini, Marcelo M. Morales

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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome von Garone, Caterina, D'Souza, Aaron R, Dallabona, Cristina, Lodi, Tiziana, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Donati, Maria Alice, Procopio, Elena, Montomoli, Martino, Guerrini, Renzo, Zeviani, Massimo, Calvo, Sarah E, Mootha, Vamsi K, DiMauro, Salvatore, Ferrero, Ileana, Minczuk, Michal

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Influence of βS-Globin Haplotypes and Hydroxyurea on Arginase I Levels in Sickle Cell Disease von Martins, Alice Maria Costa, Santos, T. E., Barbosa, M. C., Lemes, Romelia Pinheiro Gonçalves, Laurentino, M. R., Machado, R. P. G., Moreira, J. A., Bandeira, I. C. J.

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