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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 pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? by Irene Bottillo, Luigi Laino, Alessia Azzarà, Carla Lintas, Ilaria Cassano, Vincenzo Di Lazzaro, Vincenzo Di Lazzaro, Francesca Ursini, Francesco Motolese, Francesco Motolese, Simone Bargiacchi, Daniela Formicola, Paola Grammatico, Fiorella Gurrieri, Fiorella Gurrieri
Published 2024-01-01
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