Sökresultat - Paolo Balestri

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  1. 1
    Spermatogenesis in a Man with Complete Deletion of<i>USP9Y</i>

    Spermatogenesis in a Man with Complete Deletion of<i>USP9Y</i> av Alice Luddi, Maria Margollicci, Laura Gambera, Francesca Serafini, M. Cioni, Vincenzo De Leo, Paolo Balestri, Paola Piomboni

    Publicerad 2009
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  2. 2
    Childhood Absence Epilepsy: Evolution and Prognostic Factors

    Childhood Absence Epilepsy: Evolution and Prognostic Factors av Salvatore Grosso, Daniela Galimberti, Piero Vezzosi, Mariangela Farnetani, Rosanna Maria Di Bartolo, Simone Bazzotti, G Morgese, Paolo Balestri

    Publicerad 2005
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  3. 3
    Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

    Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein av Valeria Tiranti, Pio D’Adamo, Egill Briem, Giovanfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, María Teresa García‐Silva, Brigitte Vollmer, Piero Rinaldo, Si Houn Hahn, James Leonard, Shamima Rahman, Carlo Dionisi‐Vici, Barbara Garavaglia, Paolo Gasparini, Massimo Zeviani

    Publicerad 2004
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  4. 4
    CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

    CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome av Francesca Mari, Sara Azimonti, Ilaria Bertani, Fabrizio Bolognese, Elena Colombo, Rossella Caselli, Elisa Scala, Ilaria Longo, Salvatore Grosso, Chiara Pescucci, Francesca Ariani, Joussef Hayek, Paolo Balestri, Anna Bergo, Gianfranco Badaracco, Michele Zappella, Vania Broccoli, Alessandra Renieri, Charlotte Kilstrup‐Nielsen, Nicoletta Landsberger

    Publicerad 2005
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  5. 5
    <i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies

    <i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies av Daria Diodato, Laura Melchionda, Tobias B. Haack, Cristina Dallabona, Enrico Baruffini, Claudia Donnini, Tiziana Granata, Francesca Ragona, Paolo Balestri, Maria Margollicci, Eleonora Lamantea, Alessia Nasca, Christopher A. Powell, Michal Minczuk, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Costanza Lamperti, Massimo Zeviani, Daniele Ghezzi

    Publicerad 2014
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  6. 6
    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP av Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L. Hood, Oana Caluseriu, Jane A. Hurst, Usha Kini, Małgorzata J.M. Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith Allanson, Paolo Balestri, Tawfeg Ben‐Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrèe, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne Hendriks, Delphine Héron, Alexander Hoischen, Engela Honey, Lies H. Hoefsloot, Jennifer Ibrahim, Claire M Jacob, Sarina G. Kant, Chong Ae Kim, Edwin P. Kirk, Nine V.A.M. Knoers, Didier Lacombe, Chung Lee, Ivan F. M. Lo, Luiza Silveira Lucas, Francesca Mari, Verónica Mericq, Jukka S. Moilanen, Sanne Traasdahl Møller, Stéphanie Moortgat, Daniela T. Pilz, Kate Pope, Susan Price, Alessandra Renieri, Joaquim Sá, Jeroen Schoots, Elizabeth Lemos Silveira, Marleen Simon, Anne Slavotinek, I. Karen Temple, Ineke van der Burgt, Bert B.A. de Vries, James D. Weisfeld‐Adams, Margo L. Whiteford, Dagmar Wierczorek, Jan M. Wit, Connie Fung On Yee, Chandree L. Beaulieu, Sue M. White, Dennis E. Bulman, Ernie M.H.F. Bongers, Han G. Brunner, Murray Feingold, Kym M. Boycott

    Publicerad 2013
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