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Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling by Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D’Ursi, Lidia Larizza
Published 2023-02-01
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Congenital Defects in a Patient Carrying a Novel Homozygous <i>AEBP1</i> Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2? by Niccolò Di Giosaffatte, Alessandro Ferraris, Federica Gaudioso, Valentina Lodato, Emanuele Savino, Claudia Celletti, Filippo Camerota, Simone Bargiacchi, Luigi Laino, Silvia Majore, Irene Bottillo, Paola Grammatico
Published 2022-12-01
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A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes by Paola De Simone, Irene Bottillo, Michele Valiante, Alessandra Iorio, Carmelilia De Bernardo, Silvia Majore, Daniela D’Angelantonio, Tiziana Valentini, Isabella Sperduti, Paolo Piemonte, Laura Eibenschutz, Angela Ferrari, Anna Carbone, Pierluigi Buccini, Alessandro Paiardini, Vitaliano Silipo, Pasquale Frascione, Paola Grammatico
Published 2020-12-01
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