Hasil Pencarian - Donatella Greco

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  1. 1
    Implications of a <i>De Novo</i> Variant in the <i>SOX12</i> Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders

    Implications of a <i>De Novo</i> Variant in the <i>SOX12</i> Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders oleh Simone Treccarichi, Francesco Calì, Mirella Vinci, Alda Ragalmuto, Antonino Musumeci, Concetta Federico, Carola Costanza, Maria Bottitta, Donatella Greco, Salvatore Saccone, Maurizio Elia

    Diterbitkan 2024-06-01
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  2. 2
    Prader–Willi Syndrome with Angelman Syndrome in the Offspring

    Prader–Willi Syndrome with Angelman Syndrome in the Offspring oleh Donatella Greco, Luigi Vetri, Letizia Ragusa, Mirella Vinci, Angelo Gloria, Paola Occhipinti, Angela Antonia Costanzo, Giuseppe Quatrosi, Michele Roccella, Serafino Buono, Corrado Romano

    Diterbitkan 2021-05-01
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  3. 3
    Next Generation Sequencing and Electromyography Reveal the Involvement of the <i>P2RX6</i> Gene in Myopathy

    Next Generation Sequencing and Electromyography Reveal the Involvement of the <i>P2RX6</i> Gene in Myopathy oleh Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone, Maurizio Elia

    Diterbitkan 2024-01-01
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  4. 4
    Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

    Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene oleh Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis, Valeria Chiavetta, Serena Donadio, Michele Roccella, Marco Carotenuto, Valentino Romano, Francesco Calì

    Diterbitkan 2022-09-01
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  5. 5
    Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder

    Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder oleh Michele Salemi, Francesca A. Schillaci, Giuseppe Lanza, Giovanna Marchese, Maria Grazia Salluzzo, Angela Cordella, Salvatore Caniglia, Maria Grazia Bruccheri, Anna Truda, Donatella Greco, Raffaele Ferri, Corrado Romano

    Diterbitkan 2024-06-01
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  6. 6
    Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

    Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families oleh Francesco Calì, Francesco Domenico Di Blasi, Emanuela Avola, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Donatella Greco, Daniela Rita Raciti, Alessandro Zagami, Biagio Rizzo, Santina Città, Concetta Federico, Luigi Vetri, Salvatore Saccone, Serafino Buono

    Diterbitkan 2023-08-01
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  7. 7
    Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research

    Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research oleh Michele Sacco, Irene Rutigliano, Letizia Ragusa, Antonio Crinò, Graziano Grugni, Luigi Reale, Alessandra Fiorencis, Maria Rosaria Licenziati, Maria Felicia Faienza, Malgorzata Wasniewska, Maurizio Delvecchio, Adriana Franzese, Paola Fusilli, Domenico Corica, Giuseppina Campana, Donatella Greco, Mariangela Chiarito, Silvia Toscano, Maria Giulia Marini

    Diterbitkan 2020-08-01
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  8. 8
    Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome

    Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome oleh Margherita Grasso, Annamaria Fidilio, Francesca L’Episcopo, Marilena Recupero, Concetta Barone, Maria Giulia Bacalini, Cristina Benatti, Maria Concetta Giambirtone, Giuseppe Caruso, Giuseppe Caruso, Donatella Greco, Santo Di Nuovo, Corrado Romano, Corrado Romano, Raffaele Ferri, Serafino Buono, A. Claudio Cuello, Johanna M. C. Blom, Fabio Tascedda, Pier Vincenzo Piazza, Rafael De La Torre, Filippo Caraci, Filippo Caraci

    Diterbitkan 2024-03-01
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  9. 9
    The Italian registry for patients with Prader–Willi syndrome

    The Italian registry for patients with Prader–Willi syndrome oleh Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio

    Diterbitkan 2023-02-01
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  10. 10
    Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

    Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. oleh Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi

    Diterbitkan 2011-07-01
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  11. 11
    Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders oleh Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

    Diterbitkan 2020-10-01
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  12. 12
    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders oleh Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

    Diterbitkan 2020-10-01
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