Torthaí cuardaigh - Irene Bottillo

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  1. 1
    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? de réir Laura Bernardini, Viola Alesi, Sara Loddo, Antonio Novelli, Irene Bottillo, Agatino Battaglia, M. Cristina Digilio, Giuseppe Zampino, Adam Ertel, Paolo Fortina, Saul Surrey, Bruno Dallapiccola

    Foilsithe / Cruthaithe 2009
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  2. 2
    Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

    Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification de réir Alessandro De Luca, Irene Bottillo, Maria Cecilia D’Asdia, Annunziata Morella, Valentina Lanari, Laura Bernardini, Luigina Divona, Sandra Giustini, Lorenzo Sinibaldi, Antonio Novelli, Isabella Torrente, Annalisa Schirinzi, Bruno Dallapiccola

    Foilsithe / Cruthaithe 2007
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  3. 3
    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome de réir Alessandro De Luca, Irene Bottillo, Anna Sárközy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria Michela Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola

    Foilsithe / Cruthaithe 2005
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  4. 4
    Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

    Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome de réir Francesco Brancati, Paola Fortugno, Irene Bottillo, Marc Lopez, Emmanuelle Josselin, O Boudghène-Stambouli, Emanuele Agolini, Laura Bernardini, Emanuele Bellacchio, Miriam Iannicelli, Alfredo Rossi, A. Dib-Lachachi, Liborio Stuppia, Giandomenico Palka, Stefan Mundlos, Sigmar Stricker, Uwe Kornak, Giovanna Zambruno, Bruno Dallapiccola

    Foilsithe / Cruthaithe 2010
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  5. 5
    p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

    p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas de réir Valentina Pinna, Valentina Lanari, Paola Daniele, Federica Consoli, Emanuele Agolini, Katia Margiotti, Irene Bottillo, Isabella Torrente, Alessandro Bruselles, Caterina Fusilli, Anna Ficcadenti, Sara Bargiacchi, Eva Trevisson, Monica Forzan, Sandra Giustini, Chiara Leoni, Giuseppe Zampino, M. Cristina Digilio, Bruno Dallapiccola, Maurizio Clementi, Marco Tartaglia, Alessandro De Luca

    Foilsithe / Cruthaithe 2014
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