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  1. 1
    The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

    The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome von Macheroux, Eva Pauline, Braunisch, Matthias C, Pucci Pegler, Stephanie, Satanovskij, Robin, Riedhammer, Korbinian M, Günthner, Roman, Gross, Oliver, Nagel, Mato, Renders, Lutz, Hoefele, Julia

    Veröffentlicht in Frontiers in pediatrics

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  2. 2
    The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

    The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome von Macheroux, Eva Pauline, Braunisch, Matthias C, Pucci Pegler, Stephanie, Satanovskij, Robin, Riedhammer, Korbinian M, Günthner, Roman, Gross, Oliver, Nagel, Mato, Renders, Lutz, Hoefele, Julia

    Veröffentlicht in Frontiers in pediatrics

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  3. 3
    Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

    Menkes disease: importance of diagnosis with molecular analysis in the neonatal period von Costa, Larissa Sampaio de Athayde, Pegler, Stephanie Pucci, Lellis, Rute Facchini, Krebs, Vera Lúcia Jornada, Robertson, Stephen, Morgan, Tim, Honjo, Rachel Sayuri, Bertola, Débora Romeo, Kim, Chong Ae


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