نتائج البحث - Cinzia Neri

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  1. 1
    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome حسب 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

    منشور في 2005
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  2. 2
    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome

    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome حسب Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta, Gilda Cobellis, Isabella Vasta, Cinzia Neri, Edgar A. Pogna, Emma De Feo, Angelica Bibiana Delogu, Anna Sárközy, Francesca Atzeri, Angelo Selicorni, Katherine A. Rauen, Cheryl Cytrynbaum, Rosanna Weksberg, Bruno Dallapiccola, Andrea Ballabio, Bruce D. Gelb, Giovanni Neri, Marco Tartaglia

    منشور في 2006
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  3. 3
    Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

    Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome حسب Marco Tartaglia, L Pennacchio, Chen Zhao, Kamlesh Yadav, Valentina Fodale, Anna Sárközy, Bhaswati Pandit, Kimihiko Oishi, Simone Martinelli, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, James Bristow, Claudio Carta, Francesca Romana Lepri, Cinzia Neri, Isabella Vasta, Kate Gibson, Cynthia J. Curry, Juan Pedro López Siguero, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Dafna Bar‐Sagi, Bruce D. Gelb

    منشور في 2006
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