Výsledky vyhledávání - Flavia Palombo

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  1. 1
    A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

    A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy Autor Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valério Carelli

    Vydáno 2013
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  2. 2
    <i>H</i> 3 <i>M</i> 2 : detection of runs of homozygosity from whole-exome sequencing data

    <i>H</i> 3 <i>M</i> 2 : detection of runs of homozygosity from whole-exome sequencing data Autor Alberto Magi, Lorenzo Tattini, Flavia Palombo, Matteo Benelli, Alessandro Gialluisi, Betti Giusti, Rosanna Abbate, Marco Seri, Gian Franco Gensini, G. Cara Romeo, Tommaso Pippucci

    Vydáno 2014
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  3. 3
    Epilepsy with auditory features

    Epilepsy with auditory features Autor Tommaso Pippucci, Laura Licchetta, Sara Baldassari, Flavia Palombo, Veronica Menghi, Romina D’Aurizio, Chiara Leta, Carlotta Stipa, Giovanni Boero, G. D’Orsi, Alberto Magi, Ingrid E. Scheffer, Marco Seri, Paolo Tinuper, Francesca Bisulli

    Vydáno 2015
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  4. 4
    Homozygous <scp>NOTCH</scp> 3 null mutation and impaired <scp>NOTCH</scp> 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

    Homozygous <scp>NOTCH</scp> 3 null mutation and impaired <scp>NOTCH</scp> 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy Autor Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valério Carelli, Marco Seri

    Vydáno 2015
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  5. 5
    Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

    Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia Autor Caterina Marconi, Christian A. Di Buduo, Kellie LeVine, Serena Barozzi, Michela Faleschini, Valeria Bozzi, Flavia Palombo, Spencer U. McKinstry, Giuseppe Lassandro, Paola Giordano, Patrizia Noris, Carlo L. Balduini, Anna Savoia, Alessandra Balduini, Tommaso Pippucci, Marco Seri, Nicholas Katsanis, Alessandro Pecci

    Vydáno 2018
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  6. 6
    Clinical and pathogenic features of <i>ETV6</i> -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

    Clinical and pathogenic features of <i>ETV6</i> -related thrombocytopenia with predisposition to acute lymphoblastic leukemia Autor Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Patrizia Noris, Chiara Gnan, Tommaso Pippucci, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Michael Doubek, Christian A. Di Buduo, Kateřina Staňo Kozubík, Lenka Radová, Giuseppe Loffredo, Šárka Pospı́šilová, Caterina Alfano, Marco Seri, Carlo L. Balduini, Alessandro Pecci, Anna Savoia

    Vydáno 2016
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  7. 7
    Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

    Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy Autor Melanie Brugger, Antonella Lauri, Zhen Yan, Laura Ludovica Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arélin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl‐Wildemann, Hagit Daum, Rachel Michaelson‐Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valério Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner

    Vydáno 2024
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  8. 8
    SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

    SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder Autor Valentina Del Dotto, Farid Ullah, Ivano Di Meo, Pamela Magini, Mirjana Gušić, Alessandra Maresca, Leonardo Caporali, Flavia Palombo, Francesca Tagliavini, Evan H. Baugh, Bertil Macao, Zsolt Szilágyi, Camille Peron, Margaret A. Gustafson, Kamal Khan, Chiara La Morgia, Piero Barboni, Michele Carbonelli, Maria Lucia Valentino, Rocco Liguori, Vandana Shashi, Jennifer L. Sullivan, Shashi Nagaraj, Mays El-Dairi, Alessandro Iannaccone, Ioana Cutcutache, Enrico Bertini, Rosalba Carrozzo, Francesco Emma, Francesca Diomedi‐Camassei, Claudia Zanna, Martin Armstrong, Matthew Page, Nicholas Stong, Sylvia Boesch, Robert Kopajtich, Saskia B. Wortmann, Wolfgang Sperl, Erica E. Davis, William C. Copeland, Marco Seri, Maria Falkenberg, Holger Prokisch, Nicholas Katsanis, Valeria Tiranti, Tommaso Pippucci, Valério Carelli

    Vydáno 2019
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  9. 9
    Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

    Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy Autor Sarah L. Stenton, Н Л Шеремет, Claudia B. Catarino, N.A. Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria Lucia Cascavilla, Peter Charbel Issa, Peter Freisinger, S. Gerber, Daniele Ghezzi, Elisabeth Graf, Juliana Heidler, Maja Hempel, Elise Héon, Y.S. Itkis, Elisheva Javasky, Josseline Kaplan, Robert Kopajtich, Cornelia Kornblum, Réka Kovács-Nagy, Tatiana Krylova, Wolfram S. Kunz, Chiara La Morgia, Costanza Lamperti, Christina Ludwig, Pedro Felipe Malacarne, Alessandra Maresca, Johannes A. Mayr, Jana Meisterknecht, Tatiana A. Nevinitsyna, Flavia Palombo, Ben Pode‐Shakked, M.S. Shmelkova, Tim M. Strom, Francesca Tagliavini, Michal Tzadok, Amelie T. van der Ven, Catherine Vignal, Matias Wagner, Ekaterina Zakharova, N.V. Zhorzholadze, Jean‐Michel Rozet, Valério Carelli, Polina G. Tsygankova, Thomas Klopstock, Ilka Wittig, Holger Prokisch

    Vydáno 2021
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  10. 10
    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis Autor Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

    Vydáno 2019
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