Canlyniadau Chwilio - Antonio Novelli

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  1. 1
    Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality

    Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality gan Alessandra Zito, Marta Lualdi, Paola Granata, Dario Cocciadiferro, Antonio Novelli, Tiziana Alberio, Rosario Casalone, Mauro Fasano

    Cyhoeddwyd 2021
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  2. 2
    Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

    Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome gan Francesca Amati, Emanuela Conti, Antonio Novelli, Mario Bengala, M. Cristina Digilio, Bruno Marino, Aldo Giannotti, Orazio Gabrielli, Giuseppe Novelli, Bruno Dallapiccola

    Cyhoeddwyd 1999
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  3. 3
    Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype

    Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype gan A. Moroni, Elena Pedrini, Morena Tremosini, Alessia Di Cecco, Dario Cocciadiferro, Antonio Novelli, Lucia Santoro, Rosanna Cordiali, Luca Sangiorgi, Maria Gnoli

    Cyhoeddwyd 2025
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  4. 4
    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? gan Laura Bernardini, Viola Alesi, Sara Loddo, Antonio Novelli, Irene Bottillo, Agatino Battaglia, M. Cristina Digilio, Giuseppe Zampino, Adam Ertel, Paolo Fortina, Saul Surrey, Bruno Dallapiccola

    Cyhoeddwyd 2009
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  5. 5
    Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

    Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification gan Alessandro De Luca, Irene Bottillo, Maria Cecilia D’Asdia, Annunziata Morella, Valentina Lanari, Laura Bernardini, Luigina Divona, Sandra Giustini, Lorenzo Sinibaldi, Antonio Novelli, Isabella Torrente, Annalisa Schirinzi, Bruno Dallapiccola

    Cyhoeddwyd 2007
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  6. 6
    Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

    Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports gan Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola

    Cyhoeddwyd 2009
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  7. 7
    COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

    COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells gan Andrea Latini, Emanuele Agolini, Antonio Novelli, Paola Borgiani, Rosalinda Giannini, Paolo Gravina, Andrea Smarrazzo, Mario Dauri, Massimo Andreoni, Paola Rogliani, Sergio Bernardini, Manuela Helmer‐Citterich, Michela Biancolella, Giuseppe Novelli

    Cyhoeddwyd 2020
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  8. 8
    <scp>HLA</scp> allele frequencies and susceptibility to <scp>COVID</scp>‐19 in a group of 99 Italian patients

    <scp>HLA</scp> allele frequencies and susceptibility to <scp>COVID</scp>‐19 in a group of 99 Italian patients gan Antonio Novelli, Marco Andreani, Michela Biancolella, Laura Liberatoscioli, Chiara Passarelli, Vito Luigi Colona, Paola Rogliani, Francesca Leonardis, Andrea Campana, Rita Carsetti, Massimo Andreoni, Sergio Bernardini, Giuseppe Novelli, Franco Locatelli

    Cyhoeddwyd 2020
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  9. 9
    Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

    Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients gan Antonio Novelli, Michela Biancolella, Paola Borgiani, Dario Cocciadiferro, Vito Luigi Colona, Maria Rosaria D’Apice, Paola Rogliani, Salvatore Zaffina, Francesca Leonardis, Andrea Campana, Massimiliano Raponi, Massimo Andreoni, Sandro Grelli, Giuseppe Novelli

    Cyhoeddwyd 2020
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  10. 10
    Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance

    Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance gan Paola Prandini, Samuel Deutsch, Robert Lyle, Maryline Gagnebin, Céline Delucinge Vivier, Mauro Delorenzi, Corinne Gehrig, Patrick Descombes, Stephanie L. Sherman, F. Dagna Bricarelli, Chiara Baldo, Antonio Novelli, Bruno Dallapiccola, Stylianos E. Antonarakis

    Cyhoeddwyd 2007
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  11. 11
    Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

    Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study gan Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli

    Cyhoeddwyd 2024
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  12. 12
    Regulatory variants of FOXG1 in the context of its topological domain organisation

    Regulatory variants of FOXG1 in the context of its topological domain organisation gan Mana M. Mehrjouy, Ana Carolina Fonseca, Nadja Ehmke, Giorgio Adriano Paskulin, Antonio Novelli, Francesco Benedicenti, Maria Antonietta Mencarelli, Alessandra Renieri, Tiffany Busa, Chantal Missirian, Claus Hansen, Kikue Terada Abe, Carlos E. Speck‐Martins, Angela Maria Vianna‐Morgante, Mads Bak, Niels Tommerup

    Cyhoeddwyd 2017
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  13. 13
    Spectrum of epilepsy in terminal 1p36 deletion syndrome

    Spectrum of epilepsy in terminal 1p36 deletion syndrome gan Nadia Bahi‐Buisson, Eva Guttierrez‐Delicado, Christine Soufflet, Marlène Rio, Valérie Cormier‐Daire, Didier Lacombe, Delphine Héron, Alain Verloès, Sameer M. Zuberi, Lydie Bürglen, Alexandra Afenjar, Marie Laure Moutard, Patrick Edery, Antonio Novelli, Laura Bernardini, Olivier Dulac, Rima Nabbout, Perrine Plouin, Agatino Battaglia

    Cyhoeddwyd 2007
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  14. 14
    Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

    Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 gan Antonio Novelli, Francesca Romana Grati, Lucia Ballarati, Laura Bernardini, Domenico Bizzoco, Lamberto Camurri, Rosario Casalone, L Cardarelli, Pietro Cavalli, Roberto Ciccone, M. Clementi, Leda Dalprà, Mattia Gentile, G Gelli, Paola Grammatico, Michela Malacarne, Anna Maria Nardone, Vanna Pecile, Giuseppe Simoni, Orsetta Zuffardi, Daniela Giardino

    Cyhoeddwyd 2012
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  15. 15
    Myostatin Levels in <scp>SMA</scp> Following Disease‐Modifying Treatments: A Multi‐Center Study

    Myostatin Levels in <scp>SMA</scp> Following Disease‐Modifying Treatments: A Multi‐Center Study gan Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D’Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Antonio Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo P. Comi, Stefania Corti, Eugenio Mercuri

    Cyhoeddwyd 2025
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  16. 16
    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function

    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function gan Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy, Charlotte Madsen, Francesca Romana Lepri, Lorenzo Sinibaldi, Raffaella Cusmai, Antonio Novelli, Mahmoud Y. Issa, Christina Fenger, Rami Abou Jamra, Heiko Reutter, Silvana Briuglia, Emanuele Agolini, Lars Hestbjerg Hansen, Ulla E. Petäjä‐Repo, John Hintze, Kimiyo Raymond, Kristen Liedtke, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Cecilia Vitali, William T. O’Brien, Elena Gardella, Guido Rubboli, Daniel J. Rader, Katrine T. Schjoldager, Rikke S. Møller

    Cyhoeddwyd 2020
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  17. 17
    Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

    Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype gan Michael S. Breen, Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa, Anne B. Arnett, Evangeline C. Kurtz‐Nelson, Emanuele Agolini, Agatino Battaglia, Andreas G. Chiocchetti, Christine M. Freitag, Alicia García-Alcón, Paola Grammatico, Irva Hertz‐Picciotto, Yunin Ludena‐Rodriguez, Carmen Moreno, Antonio Novelli, Mara Parellada, Giulia Pascolini, Flora Tassone, Dorothy E. Grice, Daniele Di Marino, Raphael Bernier, Alexander Kolevzon, Andrew J. Sharp, Joseph D. Buxbaum, Paige M. Siper, Silvia De Rubeis

    Cyhoeddwyd 2020
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  18. 18
    Human neural stem cell transplantation in ALS: initial results from a phase I trial

    Human neural stem cell transplantation in ALS: initial results from a phase I trial gan Letizia Mazzini, Maurizio Gelati, Daniela Celeste Profico, Giada Sgaravizzi, Massimo Projetti Pensi, Gianmarco Muzi, Claudia Ricciolini, Laura Rota Nodari, Sandro Carletti, Cesare Giorgi, Cristina Spera, Domenico Frondizi, Enrica Bersano, F. Petruzzelli, Carlo Cisari, Annamaria Maglione, Maria Francesca Sarnelli, Alessandro Stecco, Giorgia Querin, Stefano Masiero, Roberto Cantello, Daniela Ferrari, Cristina Zalfa, Elena Binda, Alberto Visioli, Domenico Trombetta, Antonio Novelli, Bárbara Torres, Laura Bernardini, Alessandro Carriero, Paolo Prandi, Serena Servo, Annalisa Cerino, Valentina Cima, Alessandra Gaiani, Nicola Nasuelli, Maurilio Massara, Jonathan D. Glass, Gianni Sorarù, Nicholas M. Boulis, Angelo L. Vescovi

    Cyhoeddwyd 2015
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  19. 19
    Inhibition of HECT E3 ligases as potential therapy for COVID-19

    Inhibition of HECT E3 ligases as potential therapy for COVID-19 gan Giuseppe Novelli, Jing Liu, Michela Biancolella, Tonino Alonzi, Antonio Novelli, J. J. Patten, Dario Cocciadiferro, Emanuele Agolini, Vito Luigi Colona, Barbara Rizzacasa, Rosalinda Giannini, Benedetta Bigio, Delia Goletti, Maria Rosaria Capobianchi, Sandro Grelli, Justin David Mann, Trevor D. McKee, Ke Cheng, Fatima Amanat, Florian Krammer, Andrea Guarracino, Gerardo Pepe, Carlo Tomino, Yacine Tandjaoui-Lambiotte, Y. Uzunhan, Sarah Tubiana, Jade Ghosn, Luigi D. Notarangelo, Helen C. Su, Laurent Abel, Aurélie Cobat, Gai Elhanan, Joseph J. Grzymski, Andrea Latini, Sachdev S. Sidhu, Suresh Kumar Jain, Robert A. Davey, Jean‐Laurent Casanova, Wenyi Wei, Pier Paolo Pandolfi

    Cyhoeddwyd 2021
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  20. 20
    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD gan Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer Howe, Emanuele Agolini, Domenico Coviello, Ingrid M.B.H. van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia Pia Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoît Mazel, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Marjon A. van Slegtenhorst, Noor A. A. Giesbertz, Richard H. van Jaarsveld, Anna K. Childers, R. Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D. Buxbaum, Stephen W. Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco

    Cyhoeddwyd 2022
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