نتائج البحث - Elisa Adele Colombo
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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene حسب Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabìo Macciardi, Rolph Pfundt, Eric Schoenmakers, Lidia Larizza
منشور في 2009Artigo -
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KMT2A: Umbrella Gene for Multiple Diseases حسب Silvia Castiglioni, Elisabetta Di Fede, Clara Bernardelli, Antonella Lettieri, Chiara Parodi, Paolo Grazioli, Elisa Adele Colombo, Silvia Ancona, Donatella Milani, Emerenziana Ottaviano, Elisa Borghi, Valentina Massa, Filippo Ghelma, Aglaia Vignoli, Elena Lesma, Cristina Gervasini
منشور في 2022Revisão -
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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations حسب Elisa Adele Colombo, J. Fernando Bazán, Gloria Negri, Cristina Gervasini, Nursel Elçioğlu, Deniz Yücelten, İlknur Kıvanç Altunay, Umram Cetincelik, Anna Teti, Andrea Del Fattore, Matteo Luciani, Spencer K. Sullivan, Albert C. Yan, Ludovica Volpi, Lidia Larizza
منشور في 2012Artigo