Search Results - Mariona Font

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  1. 1
    New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

    New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype by Mariona Font-Llitjós

    Published 2005
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  2. 2
    Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers

    Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers by Luca Dello Strologo, Elon Pras, C. Pontesilli, Ercole Beccia, Vittorino Ricci-Barbini, Luisa De Sanctis, Alberto Ponzone, Michele Gallucci, Luigi Bisceglia, Leopoldo Zelante, Maite Jiménez-Vidal, Mariona Font, António Zorzano, F. Rousaud, Virginia Nunes, Paolo Gasparini, Manuel PalaciCombining Acute Accentn, Gianfranco Rizzoni

    Published 2002
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  3. 3
    Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

    Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss by Meritxell Espino Guarch, Mariona Font-Llitjós, Silvia Murillo‐Cuesta, Ekaitz Errasti‐Murugarren, Adelaida M. Celaya, Giorgia Girotto, Dragana Vuckovic, Massimo Mezzavilla, Clara Vilches, Susanna Bodoy, Ignasi Sahún, Laura González, Esther Prat, António Zorzano, Mara Dierssen, Isabel Varela‐Nieto, Paolo Gasparini, Manuel Palacı́n, Virginia Nunes

    Published 2018
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  4. 4
    Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

    Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria by Mariona Font, Lídia Feliubadaló, Xavier Estivill, Virginia Nunes, Eliahu Golomb, Yitshak Kreiss, Elon Pras, Luigi Bisceglia, Pio D’Adamo, Leopoldo Zelante, Paolo Gasparini, Maria Teresa Bassi, Alfred L. George, Marta Manzoni, Mirko Riboni, Andrea Ballabio, Giuseppe Borsani, Núria Reig, Esperanza Fernández, António Zorzano, Joan Bertran, Manuel Palacı́n

    Published 2001
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  5. 5
    Two Novel Mutations in the<i>BCKDK</i>(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

    Two Novel Mutations in the<i>BCKDK</i>(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients by Àngels García‐Cazorla, Alfonso Oyarzábal, Joana Fort, Concepción López Robles, Esperanza Castejón, Pedro Ruiz‐Sala, Susanna Bodoy, B. Merinero, Anna López‐Sala, Joaquı́n Dopazo, Virginia Nunes, Magdalena Ugarte, Rafael Artuch, Manuel Palacı́n, Pilar Rodríguez‐Pombo, Patricia Alcaide, Rosa Navarrete, Paloma Sanz, Mariona Font-Llitjós, MA Vilaseca, Aida Ormaizabal, Anna Přistoupilová, Sergi Beltrán

    Published 2014
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