Rezultaty - Renata Bocciardi

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  1. 1
    Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences

    Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences od Marco Musso, Renata Bocciardi, Sara Parodi, Roberto Ravazzolo, Isabella Ceccherini

    Wydane 2006
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  2. 2
    Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

    Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements od Renata Bocciardi, Domenico Bordo, Marco Di Duca, Maja Di Rocco, Roberto Ravazzolo

    Wydane 2008
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  3. 3
    Glial Cell Line-derived Neurotrophic Factor-stimulated Phosphatidylinositol 3-Kinase and Akt Activities Exert Opposing Effects on the ERK Pathway

    Glial Cell Line-derived Neurotrophic Factor-stimulated Phosphatidylinositol 3-Kinase and Akt Activities Exert Opposing Effects on the ERK Pathway od Baharia Mograbi, Renata Bocciardi, Isabelle Bourget, Roser Buscà, Nathalie Rochet, D Farahifar, Thierry Juhel, Bernard Rossi

    Wydane 2001
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  4. 4
    Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies

    Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies od Paloma García Quilón, Greta Volpedo, Serena Cappato, Loretta Ferrera, Federico Zara, Renata Bocciardi, Antonella Riva, Pasquale Striano

    Wydane 2024
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  5. 5
    Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

    Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease od Alberto Auricchio, Paola Griseri, Maria Luisa Carpentieri, Nicola Betsos, Annamaria Staiano, Arturo Tozzi, Manuela Priolo, H L Thompson, Renata Bocciardi, Giovanni Romeo, Andrea Ballabio, Isabella Ceccherini

    Wydane 1999
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  6. 6
    Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation

    Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation od Renata Bocciardi, Roberto Giorda, Jens Buttgereit, Stefania Gimelli, Maria Teresa Divizia, Silvana Beri, Silvio Garofalo, Sara Tavella, Margherita Lerone, Orsetta Zuffardi, Michael Bäder, Roberto Ravazzolo, Giorgio Gimelli

    Wydane 2007
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  7. 7
    ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

    ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant od Julia Haupt, Alexandra Deichsel, Katja Stange, Cindy Ast, Renata Bocciardi, Roberto Ravazzolo, Maja Di Rocco, Paola Ferrari, Antonio Landi, Frederick S. Kaplan, Eileen M. Shore, Carsten Reißner, Petra Seemann

    Wydane 2014
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  8. 8
    Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

    Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract od Stefania Gimelli, Gianluca Caridi, Silvana Beri, Kyle W. McCracken, Renata Bocciardi, Paola Zordan, Monica Dagnino, Patrizia Fiorio, Luisa Murer, Elisa Benetti, Orsetta Zuffardi, Roberto Giorda, James M. Wells, Giorgio Gimelli, Gian Marco Ghiggeri

    Wydane 2010
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  9. 9
    The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs

    The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epith... od Elvira Sondo, Federico Cresta, Cristina Pastorino, Valeria Tomati, Valeria Capurro, Emanuela Pesce, Mariateresa Lena, Michele Iacomino, Ave Maria Baffico, Domenico Coviello, Tiziano Bandiera, Federico Zara, Luis J. V. Galietta, Renata Bocciardi, Carlo Castellani, Nicoletta Pedemonte

    Wydane 2022
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  10. 10
    Frequency of RET mutations in long- and short-segment Hirschsprung disease

    Frequency of RET mutations in long- and short-segment Hirschsprung disease od Marco Seri, Yin Luo, Virginia Barone, Alessandra Bolino, Iacopo Celli, Renata Bocciardi, Barbara Pasini, Isabella Ceccherini, Margherita Lerone, Ulf Kristoffersson, Lars Torsten Larsson, J M Casasa, Daniel T. Cass, Marc Abramowicz, Jean-Marie Vanderwinden, Ingrida Kravčenkiene, Ivo Barić, Margherita Silengo, Giuseppe Martucciello, Giovanni Romeo

    Wydane 1997
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  11. 11
    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study od Marcello Scala, Irene Schiavetti, Francesca Madia, Cristina Chelleri, Gianluca Piccolo, Andrea Accogli, Antonella Riva, Vincenzo Salpietro, Renata Bocciardi, Guido Morcaldi, Marco Di Duca, Francesco Caroli, Antonio Verrico, Claudia Milanaccio, Gianmaria Viglizzo, Monica Traverso, Sımona Baldassari, Paolo Scudieri, Michele Iacomino, Gianluca Piatelli, Carlo Minetti, Pasquale Striano, Maria Luisa Garrè, Patrizia De Marco, Maria Cristina Diana, Valeria Capra, Marco Pavanello, Federico Zara

    Wydane 2021
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  12. 12
    Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop

    Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop od Ruben D. de Ruiter, Bernard J. Smilde, Gerard Pals, Nathalie Bravenboer, Petra Knaus, Ton Schoenmaker, Esmée Botman, Gonzalo Sánchez‐Duffhues, Maurizio Pacifici, Robert J. Pignolo, Eileen M. Shore, Marjolein van Egmond, Hans Van Oosterwyck, Frederick S. Kaplan, Edward C. Hsiao, Paul B. Yu, Renata Bocciardi, Carmen L. De Cunto, Patricia Delai, Teun J. de Vries, Susanne Hilderbrandt, Richard T. Jaspers, Richard Keen, Peter Koolwijk, Rolf Morhart, J.C. Netelenbos, Thomas Rustemeyer, Christiaan Scott, Clemens Stockklausner, Peter ten Dijke, James T Triffit, Francesc Ventura, Roberto Ravazzolo, Dimitra Micha, Elisabeth M. W. Eekhoff

    Wydane 2021
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