Хайлтын үр дүнгүүд - Elisabetta Lapi

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  1. 1
    Determinants of Vitamin D Levels in Children and Adolescents with Down Syndrome

    Determinants of Vitamin D Levels in Children and Adolescents with Down Syndrome -н Stefano Stagi, Elisabetta Lapi, Silvia Romano, Sara Bargiacchi, Alice Brambilla, Sabrina Giglio, Salvatore Seminara, Maurizio de Martino

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

    Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis -н Lucia Micale, Maria Giuseppina Turturo, Carmela Fusco, Bartolomeo Augello, L.A. Pérez Jurado, Claudia Izzi, M. Cristina Digilio, Donatella Milani, Elisabetta Lapi, Leopoldo Zelante, Giuseppe Merla

    Хэвлэсэн 2009
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    Artigo
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  3. 3
    Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

    Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract -н Frances R. Goodman, Stefan Mundlos, Yasuteru Muragaki, Dian Donnai, M. L. Giovannucci-Uzielli, Elisabetta Lapi, F. Majewski, Julie McGaughran, C McKeown, William Reardon, Joseph Upton, R M Winter, Bjørn R. Olsen, Peter Scambler

    Хэвлэсэн 1997
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    Artigo
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  4. 4
    The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

    The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases -н Nicoletta Chiesa, Agostina De Crescenzo, Kankadeb Mishra, Lucia Perone, Massimo Carella, Orazio Palumbo, Alessandro Mussa, Angela Sparago, Flavia Cerrato, Silvia Russo, Elisabetta Lapi, Maria Vittoria Cubellis, Chandrasekhar Kanduri, Margherita Silengo, Andrea Riccio, Giovanni Battista Ferrero

    Хэвлэсэн 2011
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    Artigo
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  5. 5
    13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

    13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients -н Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, P Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, O. Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, Daniela Giardino

    Хэвлэсэн 2006
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    Carta
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  6. 6
    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients -н Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Carmela Fusco, Pasquelena De Nittis, Maria Teresa Pellico, Barbara Mandriani, Rita Fischetto, Loredana Boccone, Margherita Silengo, Elisa Biamino, Chiara Perrìa, Stefano Sotgiu, Gigliola Serra, Elisabetta Lapi, Marcella Neri, Alessandra Ferlini, Maria Luigia Cavaliere, Pietro Chiurazzi, Matteo Della Monica, Gioacchino Scarano, Francesca Faravelli, Paola Ferrari, Laura Mazzanti, Alba Pilotta, Maria Grazia Patricelli, Maria Francesca Bedeschi, Francesco Benedicenti, Paolo Prontera, Benedetta Toschi, Leonardo Salviati, Daniela Melis, E. Di Battista, Alessandra Vancini, Livia Garavelli, Leopoldo Zelante, Giuseppe Merla

    Хэвлэсэн 2014
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    Artigo
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  7. 7
    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients -н Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria Nicla Loviglio, Margherita Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester Valentina D’Addetta, Elga Fabia Belligni, Alessia Calcagnì, M. Cristina Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria Grazia Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria Antonietta Mencarelli, Gioacchino Scarano, Matteo Della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla

    Хэвлэсэн 2011
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    Artigo
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  8. 8
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies -н Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover‐Fong, Aida Telegrafi, Anne Destrèe, Robert Śmigiel, Lindsday A. Lambie, Hülya Kayserili, Umut Altunoğlu, Elisabetta Lapi, Maria Luisa Giovannucci Uzielli, Mariana Aracena, Banu Nur, Ercan Mıhçı, Lília Maria de Azevedo Moreira, Viviane Borges Ferreira, Dafne Dain Gandelman Horovitz, Kátia M. Rocha, Aleksandra Jezela‐Stanek, Alice S. Brooks, Heiko Reutter, Julie S. Cohen, Ali Fatemi, Martin Smitka, Theresa A. Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaëlle André, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A. Veltman, Bert B.A. de Vries, Albert Schinzel, Simon E. Fisher, Alexander Hoischen, Bregje W.M. van Bon

    Хэвлэсэн 2017
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    Artigo
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  9. 9
    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome -н María Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Maria de Souza‐Motta, Massimo Molteni, Corrado Romano, Donatella Greco, S Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D’Arrigo, Daria Riva, Francesca L. Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frédérique Béna, Alfredo Brusco, Eleonora Di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, María Luisa Martínez‐Frías, M.L. Martínez‐Fernández, N. Martínez Guardia, Anna Bremer, Britt‐Marie Anderlid, Orsetta Zuffardi

    Хэвлэсэн 2011
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    Artigo
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