Works matching AU Russo, Silvia


Results: 158
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    What's going on in vaccine technology?

    Published in:
    Medicinal Research Reviews, 1997, v. 17, n. 3, p. 277, doi. 10.1002/(SICI)1098-1128(199705)17:3<277::AID-MED3>3.0.CO;2-V
    By:
    • Russo, Silvia;
    • Turin, Lauretta;
    • Zanella, Antonio;
    • Ponti, Wilma;
    • Poli, Giorgio
    Publication type:
    Article
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    Rett networked database: An integrated clinical and genetic network of rett syndrome databases.

    Published in:
    Human Mutation, 2012, v. 33, n. 7, p. 1031, doi. 10.1002/humu.22072
    By:
    • Grillo, Elisa;
    • Villard, Laurent;
    • Clarke, Angus;
    • Ben Zeev, Bruria;
    • Pineda, Mercedes;
    • Bahi-Buisson, Nadia;
    • Hryniewiecka-Jaworska, Anna;
    • Bienvenu, Thierry;
    • Armstrong, Judith;
    • Martinez, Ana Roche;
    • Mari, Francesca;
    • Veneselli, Edvige;
    • Russo, Silvia;
    • Vignoli, Aglaia;
    • Pini, Giorgio;
    • Djuric, Milena;
    • Bisgaard, Anne-Marie;
    • Mejaški Bošnjak, Vlatka;
    • Polgár, Noémi;
    • Cogliati, Francesca
    Publication type:
    Article
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    Poly(GP), neurofilament and grey matter deficits in <italic>C9orf72</italic> expansion carriers.

    Published in:
    Annals of Clinical & Translational Neurology, 2018, v. 5, n. 5, p. 583, doi. 10.1002/acn3.559
    By:
    • Meeter, Lieke H. H.;
    • Gendron, Tania F.;
    • Sias, Ana C.;
    • Jiskoot, Lize C.;
    • Russo, Silvia P.;
    • Donker Kaat, Laura;
    • Papma, Janne M.;
    • Panman, Jessica L.;
    • van der Ende, Emma L.;
    • Dopper, Elise G.;
    • Franzen, Sanne;
    • Graff, Caroline;
    • Boxer, Adam L.;
    • Rosen, Howard J.;
    • Sanchez‐Valle, Raquel;
    • Galimberti, Daniela;
    • Pijnenburg, Yolande A. L.;
    • Benussi, Luisa;
    • Ghidoni, Roberta;
    • Borroni, Barbara
    Publication type:
    Article
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    Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.

    Published in:
    Genes, 2021, v. 12, n. 4, p. 588, doi. 10.3390/genes12040588
    By:
    • Tannorella, Pierpaola;
    • Minervino, Daniele;
    • Guzzetti, Sara;
    • Vimercati, Alessandro;
    • Calzari, Luciano;
    • Patti, Giuseppa;
    • Maghnie, Mohamad;
    • Allegri, Anna Elsa Maria;
    • Milani, Donatella;
    • Scuvera, Giulietta;
    • Mariani, Milena;
    • Modena, Piergiorgio;
    • Selicorni, Angelo;
    • Larizza, Lidia;
    • Russo, Silvia
    Publication type:
    Article
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    DNA Methylation in the Diagnosis of Monogenic Diseases.

    Published in:
    Genes, 2020, v. 11, n. 4, p. 355, doi. 10.3390/genes11040355
    By:
    • Cerrato, Flavia;
    • Sparago, Angela;
    • Ariani, Francesca;
    • Brugnoletti, Fulvia;
    • Calzari, Luciano;
    • Coppedè, Fabio;
    • De Luca, Alessandro;
    • Gervasini, Cristina;
    • Giardina, Emiliano;
    • Gurrieri, Fiorella;
    • Lo Nigro, Cristiana;
    • Merla, Giuseppe;
    • Miozzo, Monica;
    • Russo, Silvia;
    • Sangiorgi, Eugenio;
    • Sirchia, Silvia M;
    • Squeo, Gabriella Maria;
    • Tabano, Silvia;
    • Tabolacci, Elisabetta;
    • Torrente, Isabella
    Publication type:
    Article
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    Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 611, doi. 10.1038/ejhg.2008.233
    By:
    • Bliek, Jet;
    • Verde, Gaetano;
    • Callaway, Jonathan;
    • Maas, Saskia M.;
    • De Crescenzo, Agostina;
    • Sparago, Angela;
    • Cerrato, Flavia;
    • Russo, Silvia;
    • Ferraiuolo, Serena;
    • Rinaldi, Maria Michela;
    • Fischetto, Rita;
    • Lalatta, Faustina;
    • Giordano, Lucio;
    • Ferrari, Paola;
    • Cubellis, Maria Vittoria;
    • Larizza, Lidia;
    • Temple, I. Karen;
    • Mannens, Marcel M. A. M.;
    • Mackay, Deborah J. G.;
    • Riccio, Andrea
    Publication type:
    Article
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    Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

    Published in:
    European Journal of Human Genetics, 2002, v. 10, n. 9, p. 516, doi. 10.1038/sj.ejhg.5200846
    By:
    • Toutain, Annick;
    • Dessay, Benoit;
    • Ronce, Nathalie;
    • Ferrante, Maria-Immacolata;
    • Tranchemontagne, Julie;
    • Newbury-Ecob, Ruth;
    • Wallgren-Pettersson, Carina;
    • Burn, John;
    • Kaplan, Josseline;
    • Rossi, Annick;
    • Russo, Silvia;
    • Walpole, Ian;
    • Hartsfield, James K.;
    • Oyen, Nina;
    • Nemeth, Andrea;
    • Bitoun, Pierre;
    • Trump, Dorothy;
    • Moraine, Claude;
    • Franco, Brunella
    Publication type:
    Article
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    Workload measurement for molecular genetics laboratory: A survey study.

    Published in:
    PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206855
    By:
    • Tagliafico, Enrico;
    • Bernardis, Isabella;
    • Grasso, Marina;
    • D’Apice, Maria Rosaria;
    • Lapucci, Cristina;
    • Botta, Annalisa;
    • Giachino, Daniela Francesca;
    • Marinelli, Maria;
    • Primignani, Paola;
    • Russo, Silvia;
    • Sani, Ilaria;
    • Seia, Manuela;
    • Fini, Sergio;
    • Rimessi, Paola;
    • Tenedini, Elena;
    • Ravani, Anna;
    • Genuardi, Maurizio;
    • Ferlini, Alessandra;
    • null, null
    Publication type:
    Article
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    Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00684-8
    By:
    • Bonfiglio, Ferdinando;
    • Legati, Andrea;
    • Lasorsa, Vito Alessandro;
    • Palombo, Flavia;
    • De Riso, Giulia;
    • Isidori, Federica;
    • Russo, Silvia;
    • Furini, Simone;
    • Merla, Giuseppe;
    • Coppedè, Fabio;
    • Tartaglia, Marco;
    • Bruselles, Alessandro;
    • Pippucci, Tommaso;
    • Ciolfi, Andrea;
    • Pinelli, Michele;
    • Capasso, Mario
    Publication type:
    Article
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    Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 4, p. 314, doi. 10.1111/cge.14193
    By:
    • Carli, Diana;
    • Operti, Matteo;
    • Russo, Silvia;
    • Cocchi, Guido;
    • Milani, Donatella;
    • Leoni, Chiara;
    • Prada, Elisabetta;
    • Melis, Daniela;
    • Falco, Mariateresa;
    • Spina, Jennifer;
    • Uliana, Vera;
    • Sara, Osimani;
    • Sirchia, Fabio;
    • Tarani, Luigi;
    • Macchiaiolo, Marina;
    • Cerrato, Flavia;
    • Sparago, Angela;
    • Pignata, Laura;
    • Tannorella, Pierpaola;
    • Cardaropoli, Simona
    Publication type:
    Article
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    Deletions in the CDKL5 5′ untranslated region lead to CDKL5 deficiency disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63843
    By:
    • Haviland, Isabel;
    • Hector, Ralph D.;
    • Swanson, Lindsay C.;
    • Verran, Aubrie Soucy;
    • Sherrill, Emma;
    • Frazier, Zoë;
    • Denny, AnneMarie M.;
    • Lucash, Jenna;
    • Zhang, Bo;
    • Dubbs, Holly A.;
    • Marsh, Eric D.;
    • Weisenberg, Judith L.;
    • Leonard, Helen;
    • Crippa, Milena;
    • Cogliati, Francesca;
    • Russo, Silvia;
    • Suter, Bernhard;
    • Rajaraman, Rajsekar;
    • Percy, Alan K.;
    • Schreiber, John M.
    Publication type:
    Article
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    Nomenclature and definition in asymmetric regional body overgrowth.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
    By:
    • Kalish, Jennifer M.;
    • Biesecker, Leslie G.;
    • Brioude, Frederic;
    • Deardorff, Matthew A.;
    • Di Cesare‐Merlone, Alessandra;
    • Druley, Todd;
    • Ferrero, Giovanni B.;
    • Lapunzina, Pablo;
    • Larizza, Lidia;
    • Maas, Saskia;
    • Macchiaiolo, Marina;
    • Maher, Eamonn R.;
    • Maitz, Silvia;
    • Martinez‐Agosto, Julian A.;
    • Mussa, Alessandro;
    • Robinson, Peter;
    • Russo, Silvia;
    • Selicorni, Angelo;
    • Hennekam, Raoul C.
    Publication type:
    Article
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    Cover Image, Volume 173A, Number 7, July 2017.

    Published in:
    2017
    By:
    • Kalish, Jennifer M.;
    • Biesecker, Leslie G.;
    • Brioude, Frederic;
    • Deardorff, Matthew A.;
    • Di Cesare‐Merlone, Alessandra;
    • Druley, Todd;
    • Ferrero, Giovanni B.;
    • Lapunzina, Pablo;
    • Larizza, Lidia;
    • Maas, Saskia;
    • Macchiaiolo, Marina;
    • Maher, Eamonn R.;
    • Maitz, Silvia;
    • Martinez‐Agosto, Julian A.;
    • Mussa, Alessandro;
    • Robinson, Peter;
    • Russo, Silvia;
    • Selicorni, Angelo;
    • Hennekam, Raoul C.
    Publication type:
    Other
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    Thrombocytopenia and Cornelia de Lange Syndrome: Still an Enigma?

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 130, doi. 10.1002/ajmg.a.37390
    By:
    • Cavalleri, Valeria;
    • Bettini, Laura R.;
    • Barboni, Chiara;
    • Cereda, Anna;
    • Mariani, Milena;
    • Spinelli, Marco;
    • Gervasini, Cristina;
    • Russo, Silvia;
    • Biondi, Andrea;
    • Jankovic, Momcilo;
    • Selicorni, Angelo
    Publication type:
    Article
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    Prevalence of beckwith-wiedemann syndrome in North West of Italy.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2481, doi. 10.1002/ajmg.a.36080
    By:
    • Mussa, Alessandro;
    • Russo, Silvia;
    • De Crescenzo, Agostina;
    • Chiesa, Nicoletta;
    • Molinatto, Cristina;
    • Selicorni, Angelo;
    • Richiardi, Lorenzo;
    • Larizza, Lidia;
    • Silengo, Margherita Cirillo;
    • Riccio, Andrea;
    • Ferrero, Giovanni Battista
    Publication type:
    Article
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    Still feeling employable with growing age? Exploring the moderating effects of developmental HR practices and country-level unemployment rates in the age – employability relationship.

    Published in:
    International Journal of Human Resource Management, 2020, v. 31, n. 9, p. 1180, doi. 10.1080/09585192.2020.1737833
    By:
    • Dello Russo, Silvia;
    • Parry, Emma;
    • Bosak, Janine;
    • Andresen, Maike;
    • Apospori, Eleni;
    • Bagdadli, Silvia;
    • Chudzikowski, Katharina;
    • Dickmann, Michael;
    • Ferencikova, Sonia;
    • Gianecchini, Martina;
    • Hall, Douglas Tim;
    • Kaše, Robert;
    • Lazarova, Mila;
    • Reichel, Astrid
    Publication type:
    Article
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