Hasil Pencarian - Maria Rosaria D’Apice

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  1. 1
    <i>In Cis</i> Effect of <i>DMPK</i> Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array

    <i>In Cis</i> Effect of <i>DMPK</i> Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array oleh Virginia Veronica Visconti, Elisa Macrì, Maria Rosaria D’Apice, Federica Centofanti, Roberto Massa, Giuseppe Novelli, Annalisa Botta

    Diterbitkan 2023-06-01
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  2. 2
    Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene

    Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene oleh Liliana Guerra, Fabio Bergamo, Maria Rosaria D'Apice, Francesco Angelucci, Stefano di Girolamo, Letizia Camerota, Rosanna Monetta, Giorgio Annessi, Daniele Castiglia, Giuseppe Novelli, Mauro Paradisi, Francesco Brancati

    Diterbitkan 2019-09-01
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  3. 3
    Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing

    Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing oleh Massimiliano Alfano, Luca De Antoni, Federica Centofanti, Virginia Veronica Visconti, Simone Maestri, Chiara Degli Esposti, Roberto Massa, Maria Rosaria D'Apice, Giuseppe Novelli, Massimo Delledonne, Annalisa Botta, Marzia Rossato

    Diterbitkan 2022-08-01
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  4. 4
    Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

    Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients oleh Antonio Novelli, Michela Biancolella, Paola Borgiani, Dario Cocciadiferro, Vito Luigi Colona, Maria Rosaria D’Apice, Paola Rogliani, Salvatore Zaffina, Francesca Leonardis, Andrea Campana, Massimiliano Raponi, Massimo Andreoni, Sandro Grelli, Giuseppe Novelli

    Diterbitkan 2020-09-01
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  5. 5
    Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients

    Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients oleh Francesca Amati, Chiara Vancheri, Andrea Latini, Vito Luigi Colona, Sandro Grelli, Maria Rosaria D'Apice, Emanuela Balestrieri, Chiara Passarelli, Antonella Minutolo, Sara Loddo, Andrea Di Lorenzo, Paola Rogliani, Massimo Andreoni, Giuseppe Novelli

    Diterbitkan 2020-10-01
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  6. 6
    The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence

    The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence oleh Romina Burla, Mariateresa Carcuro, Mattia La Torre, Federica Fratini, Marco Crescenzi, Maria Rosaria D'Apice, Paola Spitalieri, Grazia Daniela Raffa, Letizia Astrologo, Giovanna Lattanzi, Enrico Cundari, Domenico Raimondo, Annamaria Biroccio, Maurizio Gatti, Isabella Saggio

    Diterbitkan 2016-01-01
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  7. 7
    Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture

    Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture oleh Valentina Grosso, Luca Marcolungo, Simone Maestri, Massimiliano Alfano, Denise Lavezzari, Barbara Iadarola, Alessandro Salviati, Alessandro Salviati, Barbara Mariotti, Annalisa Botta, Maria Rosaria D’Apice, Giuseppe Novelli, Giuseppe Novelli, Giuseppe Novelli, Massimo Delledonne, Massimo Delledonne, Marzia Rossato, Marzia Rossato

    Diterbitkan 2021-09-01
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  8. 8
    A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

    A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles oleh Annalisa Botta, Virginia Veronica Visconti, Luana Fontana, Paola Bisceglia, Paola Bisceglia, Mario Bengala, Roberto Massa, Ilaria Bagni, Rosanna Cardani, Federica Sangiuolo, Federica Sangiuolo, Giovanni Meola, Giovanni Meola, Giovanni Antonini, Antonio Petrucci, Elena Pegoraro, Maria Rosaria D’Apice, Giuseppe Novelli, Giuseppe Novelli

    Diterbitkan 2021-06-01
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  9. 9
    Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype

    Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype oleh Enrica Marchionni, Maria Rosaria D'Apice, Viviana Lupo, Giovanna Lattanzi, Elisabetta Mattioli, Gina Lisignoli, Elena Gabusi, Gerardo Pepe, Manuela Helmer Citterich, Elena Campione, Anna Maria Nardone, Paola Spitalieri, Noemi Pucci, Dario Cocciadiferro, Eliseo Picchi, Francesco Garaci, Antonio Novelli, Giuseppe Novelli

    Diterbitkan 2023-12-01
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  10. 10
    Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

    Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction oleh Cristina Cappelletti, Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano, Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi, Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi

    Diterbitkan 2020-06-01
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  11. 11
    Workload measurement for molecular genetics laboratory: A survey study.

    Workload measurement for molecular genetics laboratory: A survey study. oleh Enrico Tagliafico, Isabella Bernardis, Marina Grasso, Maria Rosaria D'Apice, Cristina Lapucci, Annalisa Botta, Daniela Francesca Giachino, Maria Marinelli, Paola Primignani, Silvia Russo, Ilaria Sani, Manuela Seia, Sergio Fini, Paola Rimessi, Elena Tenedini, Anna Ravani, Maurizio Genuardi, Alessandra Ferlini, Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU

    Diterbitkan 2018-01-01
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  12. 12
    European lipodystrophy registry: background and structure

    European lipodystrophy registry: background and structure oleh Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, Martin Wabitsch

    Diterbitkan 2020-01-01
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