Hasil Pencarian - Francesca Forzano

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  1. 1
    Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders

    Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders oleh Francesca Cogliati, Francesca Forzano, Silvia Russo

    Diterbitkan 2021-07-01
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  2. 2
    FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

    FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene oleh Esperanza Fernández, Esperanza Fernández, Elena Gennaro, Filomena Pirozzi, Filomena Pirozzi, Chiara Baldo, Francesca Forzano, Francesca Forzano, Licia Turolla, Francesca Faravelli, Denise Gastaldo, Domenico Coviello, Marina Grasso, Claudia Bagni, Claudia Bagni, Claudia Bagni, Claudia Bagni

    Diterbitkan 2018-11-01
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  3. 3
    P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

    P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9 oleh Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza

    Diterbitkan 2019-08-01
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  4. 4
    Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

    Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) oleh Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini

    Diterbitkan 2021-01-01
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