Hasil Pencarian - Adelaide Ambrosio

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  1. 1
    Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients

    Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients oleh Tiziana Fioretti, Luigi Auricchio, Angelo Piccirillo, Giuseppina Vitiello, Adelaide Ambrosio, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito

    Diterbitkan 2020-11-01
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  2. 2
    De Novo Large Deletions in the <i>PHEX</i> Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab

    De Novo Large Deletions in the <i>PHEX</i> Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab oleh Carmine Pecoraro, Tiziana Fioretti, Assunta Perruno, Antonella Klain, Daniela Cioffi, Adelaide Ambrosio, Diego Passaro, Luigi Annicchiarico Petruzzelli, Carmela Di Domenico, Domenico de Girolamo, Sabrina Vallone, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito

    Diterbitkan 2023-07-01
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  3. 3
    Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

    Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis oleh Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito

    Diterbitkan 2024-05-01
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