Showing 1 - 10 results of 10 for search 'Marina Goldoni', query time: 0.04s Refine Results
  1. 1
    Epilepsy phenotype in patients with Xp22.31 microduplication

    Epilepsy phenotype in patients with Xp22.31 microduplication by Mario Brinciotti, Francesca Fioriello, Antonio Mittica, Laura Bernardini, Marina Goldoni, Maria Matricardi

    Published 2019-01-01
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  2. 2
    Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual Disability

    Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual Disability by Gianmaria Miolo, Laura Bernardini, Anna Capalbo, Anna Favia, Marina Goldoni, Barbara Pivetta, Giovanni Tessitori, Giuseppe Corona

    Published 2020-11-01
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  3. 3
    Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype

    Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype by Maria Luce Genovesi, Barbara Torres, Marina Goldoni, Eliana Salvo, Claudia Cesario, Massimo Majolo, Tommaso Mazza, Carmelo Piscopo, Laura Bernardini

    Published 2022-07-01
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  4. 4
    Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

    Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region by Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti

    Published 2023-11-01
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  5. 5
    3′UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus

    3′UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus by Maria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, Giovanna Carpentieri, Barbara Torres, Anca Daniela Deac, Serena Cecchetti, Anna Martinelli, Alessandro Vaisfeld, Elisabetta Flex, Laura Bernardini

    Published 2022-09-01
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  6. 6
    Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

    Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850) by Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi

    Published 2018-03-01
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  7. 7
    Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

    Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review by Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu

    Published 2021-01-01
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  8. 8
    Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7

    Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 by Elisa Maria Turco, Ersilia Vinci, Filomena Altieri, Daniela Ferrari, Barbara Torres, Marina Goldoni, Giuseppe Lamorte, Ada Maria Tata, Gianluigi Mazzoccoli, Diana Postorivo, Matteo Della Monica, Laura Bernardini, Angelo Luigi Vescovi, Jessica Rosati

    Published 2018-10-01
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  9. 9
    Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

    Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? by Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, Camilla Savio, Claudia De Vitis, Simona Petrucci, Valentina Salvati, Marina Goldoni, Marco Fabiani, Alvaro Mesoraca, Caterina Micolonghi, Barbara Torres, Annalisa Piccinetti, Roberto Pippi, Rita Mancini

    Published 2022-11-01
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  10. 10
    Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

    Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA) by Eris Bidollari, Giovannina Rotundo, Filomena Altieri, Mariangela Amicucci, Daniele Wiquel, Daniela Ferrari, Marina Goldoni, Laura Bernardini, Federica Consoli, Alessandro De Luca, Sergio Fanelli, Giuseppe Lamorte, Leonardo D'Agruma, Angelo Luigi Vescovi, Ferdinando Squitieri, Jessica Rosati

    Published 2019-10-01
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