Treffer 1 - 6 von 6 für Suche 'Montalvo, Anna Lisa', Suchdauer: 0,69s Treffer weiter einschränken
  1. 1
    Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles

    Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles von Montalvo, Anna Lisa E., Filocamo, Mirella, Vlahoviček, Kristian, Dardis, Andrea, Lualdi, Susanna, Corsolini, Fabio, Bembi, Bruno, Pittis, Maria Gabriela

    Veröffentlicht in Human mutation

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  2. 2
    Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1

    Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1 von Miočić, Snježana, Filocamo, Mirella, Dominissini, Silvia, Montalvo, Anna Lisa E., Vlahoviček, Kristian, Deganuto, Marta, Mazzotti, Raffaella, Cariati, Roberta, Bembi, Bruno, Pittis, Maria Gabriela

    Veröffentlicht in Human mutation

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  3. 3
    Glycogenosis type II: identification and expression of three novel mutations in the acid α-glucosidase gene causing the infantile form of the disease

    Glycogenosis type II: identification and expression of three novel mutations in the acid α-glucosidase gene causing the infantile form of the disease von Montalvo, Anna Lisa E, Cariati, Roberta, Deganuto, Marta, Guerci, Veronica, Garcia, Rodolfo, Ciana, Giovanni, Bembi, Bruno, Pittis, Maria Gabriela


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  4. 4
    Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II

    Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II von Pittis, Maria Gabriela, Montalvo, Anna Lisa E., Miocic, Snjezana, Martini, Cristina, Deganuto, Marta, Candusso, Manila, Ciana, Giovanni, Bembi, Bruno


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  5. 5
    Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes

    Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes von Zampieri, Stefania, Buratti, Emanuele, Dominissini, Silvia, Montalvo, Anna Lisa, Pittis, Maria Gabriela, Bembi, Bruno, Dardis, Andrea


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  6. 6
    Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma

    Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis I... von Persichetti, Emanuele, Chuzhanova, Nadia A, Dardis, Andrea, Tappino, Barbara, Pohl, Sandra, Thomas, Nick S.T, Rosano, Camillo, Balducci, Chiara, Paciotti, Silvia, Dominissini, Silvia, Montalvo, Anna Lisa, Sibilio, Michela, Parini, Rossella, Rigoldi, Miriam, Di Rocco, Maja, Parenti, Giancarlo, Orlacchio, Aldo, Bembi, Bruno, Cooper, David N, Filocamo, Mirella, Beccari, Tommaso

    Veröffentlicht in Human mutation

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