检索结果 - Robusto, Michela

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  1. 1
    Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

    Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss 由 Chiereghin, Chiara, Robusto, Michela, Massa, Valentina, Castorina, Pierangela, Ambrosetti, Umberto, Asselta, Rosanna, Soldà, Giulia

    出版 2022
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  2. 2
    First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family

    First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family 由 Soldà, Giulia, Caccia, Sonia, Robusto, Michela, Chiereghin, Chiara, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna

    出版 2015
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  3. 3
    A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

    A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 由 Soldà, Giulia, Robusto, Michela, Primignani, Paola, Castorina, Pierangela, Benzoni, Elena, Cesarani, Antonio, Ambrosetti, Umberto, Asselta, Rosanna, Duga, Stefano

    出版 2012
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  4. 4
    Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

    Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis 由 Chiereghin, Chiara, Robusto, Michela, Mastrangelo, Antonio, Castorina, Pierangela, Montini, Giovanni, Giani, Marisa, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia

    出版 2017
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  5. 5
    SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

    SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa 由 Chiereghin, Chiara, Robusto, Michela, Mauri, Lucia, Primignani, Paola, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia

    出版 2021
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  6. 6
    X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases

    X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases 由 Mastrangelo, Antonio, Giani, Marisa, Groppali, Elena, Castorina, Pierangela, Soldà, Giulia, Robusto, Michela, Fallerini, Chiara, Bruttini, Mirella, Renieri, Alessandra, Montini, Giovanni

    出版 2020
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  7. 7
    DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease

    DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 由 Vecellio, Matteo, Paraboschi, Elvezia Maria, Ceribelli, Angela, Isailovic, Natasa, Motta, Francesca, Cardamone, Giulia, Robusto, Michela, Asselta, Rosanna, Brescianini, Sonia, Sacrini, Francesco, Costanzo, Antonio, De Santis, Maria, Stazi, Maria Antonietta, Duga, Stefano, Selmi, Carlo

    出版 2021
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  8. 8
    The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

    The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy 由 Robusto, Michela, Fang, Mingyan, Asselta, Rosanna, Castorina, Pierangela, Previtali, Stefano C, Caccia, Sonia, Benzoni, Elena, De Cristofaro, Raimondo, Yu, Cong, Cesarani, Antonio, Liu, Xuanzhu, Li, Wangsheng, Primignani, Paola, Ambrosetti, Umberto, Xu, Xun, Duga, Stefano, Soldà, Giulia

    出版 2015
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