检索结果 - Barbara Tappino

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  1. 1
    Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

    Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis 由 Mariarosaria Donnarumma, Stefano Regis, Barbara Tappino, Camillo Rosano, Stefania Assereto, Fabio Corsolini, Maja Di Rocco, Mirella Filocamo

    出版 2007
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  2. 2
    Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

    Cell Line and DNA Biobank From Patients Affected by Genetic Diseases 由 Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini, Marina Stroppiano, Giorgia Stroppiana, Serena Grossi, Susanna Lualdi, Barbara Tappino, Federica Lanza, Sara Galotto, Roberta Biancheri

    出版 2014
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  3. 3
    Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

    Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease 由 Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, D.N. Cooper, Mirella Filocamo

    出版 2010
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  4. 4
    The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on<i>GNPTAB</i>and<i>GNPTG</i>mutations

    The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on<i>GNPTAB</i>and<i>GNPTG</i>mutations 由 Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova, Nataniel Floriano Ludwig, Michael J. Friez, Sara Cathey, Mirella Filocamo, Barbara Tappino, Nilay Güneş, Beyhan Tüysüz, Karen Tylee, Kathryn L. Brammeier, Lesley Heptinstall, Esmée Oussoren, Ans T. van der Ploeg, Christine Petersen, Sandra Alves, Gloria Durán Saavedra, Ida Vanessa Döederlein Schwartz, Nicole Muschol, Kerstin Kutsche, Sandra Pohl

    出版 2019
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