检索结果 - Maria Luigia Cavaliere

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  1. 1
    Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

    Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients 由 Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, Livia Garavelli, Jean‐Pierre Fryns, Ellen Crushell, Maria Michela Rinaldi, Ana Medeira, Vincenzo Sorrentino

    出版 2003
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  2. 2
    Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

    Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype 由 Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Romana Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, M. Cristina Digilio, Maria Luigia Cavaliere, Johanna M. van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni Battista Ferrero, Laura Mazzanti, Isabella Screpanti, Helger G. Yntema, Willy M. Nillesen, Ravi Savarirayan, Martin Zenker, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    出版 2010
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    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 由 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

    出版 2014
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