Showing 1 - 3 results of 3 for search 'Viviana Cordeddu', query time: 0.02s Refine Results
  1. 1
    Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants

    Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants by Manuela Priolo, Cecilia Mancini, Simone Pizzi, Luigi Chiriatti, Francesca Clementina Radio, Viviana Cordeddu, Letizia Pintomalli, Corrado Mammì, Bruno Dallapiccola, Marco Tartaglia

    Published 2022-05-01
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  2. 2
    Co-Occurring Heterozygous <em>CNOT3</em> and <em>SMAD6</em> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype

    Co-Occurring Heterozygous <em>CNOT3</em> and <em>SMAD6</em> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype by Manuela Priolo, Francesca Clementina Radio, Simone Pizzi, Letizia Pintomalli, Francesca Pantaleoni, Cecilia Mancini, Viviana Cordeddu, Emilio Africa, Corrado Mammì, Bruno Dallapiccola, Marco Tartaglia

    Published 2021-06-01
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  3. 3
    Biallelic Inactivating <i>TUB</i> Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium

    Biallelic Inactivating <i>TUB</i> Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium by Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Marco Tartaglia, Viviana Cordeddu

    Published 2022-11-01
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