Hasil Pencarian - Francesca Cogliati

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  1. 1
    Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders

    Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders oleh Francesca Cogliati, Francesca Forzano, Silvia Russo

    Diterbitkan 2021-07-01
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  2. 2
    Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

    Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS oleh Maura Masciadri, Anna Ficcadenti, Donatella Milani, Francesca Cogliati, Maria Teresa Divizia, Lidia Larizza, Silvia Russo

    Diterbitkan 2018-11-01
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  3. 3
    SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features

    SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features oleh Roberta Epifanio, Roberto Giorda, Maria Carolina Merlano, Nicoletta Zanotta, Romina Romaniello, Susan Marelli, Silvia Russo, Francesca Cogliati, Maria Teresa Bassi, Claudio Zucca

    Diterbitkan 2021-12-01
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  4. 4
    Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

    Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants oleh Sara Perego, Valentina Alari, Gianluca Pietra, Andrea Lamperti, Alessandro Vimercati, Nicole Camporeale, Maria Garzo, Francesca Cogliati, Donatella Milani, Aglaia Vignoli, Angela Peron, Lidia Larizza, Tommaso Pizzorusso, Silvia Russo

    Diterbitkan 2022-11-01
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  5. 5
    Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

    Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes oleh Francesca Cogliati, Valentina Giorgini, Maura Masciadri, Maria Teresa Bonati, Margherita Marchi, Irene Cracco, Davide Gentilini, Angela Peron, Miriam Nella Savini, Luigina Spaccini, Barbara Scelsa, Silvia Maitz, Edvige Veneselli, Giulia Prato, Maria Pintaudi, Isabella Moroni, Aglaia Vignoli, Lidia Larizza, Silvia Russo

    Diterbitkan 2019-07-01
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  6. 6
    Analysis of the Phenotypes in the Rett Networked Database

    Analysis of the Phenotypes in the Rett Networked Database oleh Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

    Diterbitkan 2019-01-01
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