Showing 1 - 3 results of 3 for search 'Pamela Magini', query time: 0.02s Refine Results
  1. 1
    Is it worth a CGH array? MBD5 haploinsufficiency and clinical variability in MBD5-associated neurodevelopmental disorder: a case report

    Is it worth a CGH array? MBD5 haploinsufficiency and clinical variability in MBD5-associated neurodevelopmental disorder: a case report by Federica Trentin, Tullio Messana, Giulia J. Leone, Pamela Magini, Marco Seri, Duccio M. Cordelli

    Published 2025-03-01
    Get full text
    Article
    Save to List
    Saved in:
  2. 2
    Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

    Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy by 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, Valerio Carelli, Marco Seri

    Published 2015-04-01
    Get full text
    Article
    Save to List
    Saved in:
  3. 3
    Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

    Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients by Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo

    Published 2014-04-01
    Get full text
    Article
    Save to List
    Saved in:

Search Tools: