Αποτελέσματα αναζήτησης - Antonio Novelli

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

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

    Έκδοση 2021
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από Francesca Amati, Emanuela Conti, Antonio Novelli, Mario Bengala, M. Cristina Digilio, Bruno Marino, Aldo Giannotti, Orazio Gabrielli, Giuseppe Novelli, Bruno Dallapiccola

    Έκδοση 1999
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από A. Moroni, Elena Pedrini, Morena Tremosini, Alessia Di Cecco, Dario Cocciadiferro, Antonio Novelli, Lucia Santoro, Rosanna Cordiali, Luca Sangiorgi, Maria Gnoli

    Έκδοση 2025
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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? από 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

    Έκδοση 2009
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2007
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2009
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2007
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2024
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  13. 13
    Spectrum of epilepsy in terminal 1p36 deletion syndrome

    Spectrum of epilepsy in terminal 1p36 deletion syndrome από 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

    Έκδοση 2007
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2012
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2025
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2020
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2015
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  19. 19
    Inhibition of HECT E3 ligases as potential therapy for COVID-19

    Inhibition of HECT E3 ligases as potential therapy for COVID-19 από 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

    Έκδοση 2021
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  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 από 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

    Έκδοση 2022
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

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