Ohcanbohtosat - Sebastio, Gianfranco

Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease Dahkki Bodoy, Susanna, Sotillo, Fernando, Espino-Guarch, Meritxell, Sperandeo, Maria Pia, Ormazabal, Aida, Zorzano, Antonio, Sebastio, Gianfranco, Artuch, Rafael, Palacín, Manuel

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Relaxation of Insulin-like Growth Factor 2 Imprinting and Discordant Methylation at KvDMR1 in Two First Cousins Affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber Syndromes Dahkki Sperandeo, Maria Pia, Ungaro, Paola, Vernucci, Maria, Pedone, Paolo V., Cerrato, Flavia, Perone, Lucia, Casola, Stefano, Cubellis, Maria Vittoria, Bruni, Carmelo B., Andria, Generoso, Sebastio, Gianfranco, Riccio, Andrea

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Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance Dahkki Sperandeo, Maria Pia, Bassi, Maria Teresa, Riboni, Mirko, Parenti, Giancarlo, Buoninconti, Anna, Manzoni, Marta, Incerti, Barbara, Larocca, Maria Rosaria, Di Rocco, Maja, Strisciuglio, Pietro, Dianzani, Irma, Parini, Rossella, Candito, Miranda, Endo, Fumio, Ballabio, Andrea, Andria, Generoso, Sebastio, Gianfranco, Borsani, Giuseppe

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Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion Dahkki Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor

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