Resultados da busca - Francesca Cogliati

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  1. 1
    Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

    Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes por Silvia Russo, Margherita Marchi, Francesca Cogliati, Maria Teresa Bonati, Maria Pintaudi, E. Veneselli, Veronica Saletti, M. R. Balestrini, Bruria Ben‐Zeev, Lidia Larizza

    Publicado em 2009
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  2. 2
    Epilepsy in Rett syndrome: Clinical and genetic features

    Epilepsy in Rett syndrome: Clinical and genetic features por Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Elena Biggi Parodi, Francesca Aiello, M. G. Baglietto, Joussef Hayek, Sabrina Buoni, Alessandra Renieri, Silvia Russo, Francesca Cogliati, Lucio Giordano, Maria Paola Canevini, Edvige Veneselli

    Publicado em 2010
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  3. 3
    Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

    Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly por Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, A. Sirri, Salvatore Carrabino, Errico D’Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans‐Hilger Ropers, Andreas Tzschach, Vera M. Kalscheuer, Barbara Oehl‐Jaschkowitz, Cindy Skinner, Charles E. Schwartz, Jozef Gécz, Hilde Van Esch, Martine Raynaud, Jamel Chelly, Arjan P.M. de Brouwer, Daniela Toniolo, Patrizia D’Adamo

    Publicado em 2010
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  4. 4
    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy por Elena Gardella, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, Sabrina Siliquini, Bigna K. Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M. Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sándor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E. Scheffer, Renzo Guerrini, Rikke S. Møller

    Publicado em 2018
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  5. 5
    Analysis of the Phenotypes in the Rett Networked Database

    Analysis of the Phenotypes in the Rett Networked Database por Elisa Frullanti, Filomena Tiziana Papa, Elisa Grillo, Angus Clarke, Bruria Ben‐Zeev, Mercédes Pineda, Nadia Bahi‐Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martínez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djurić, Anne‐Marie Bisgaard, Kirstine Ravn, Vlatka Mejaški Bošnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, V. Yu. Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

    Publicado em 2019
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