Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1-hamartin" phenotype characterized by reduced cell growth by Andrea D. Praticò, Raffaele Falsaperla, Mattia Comella, Giuseppe Belfiore, Agata Polizzi, Martino Ruggieri

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Clinical spectrum of woolly hair: indications for cerebral involvement by Piero Pavone, Raffaele Falsaperla, Massimo Barbagallo, Agata Polizzi, Andrea D. Praticò, Martino Ruggieri

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Gaming Technology for Pediatric Neurorehabilitation: A Systematic Review by Marco Iosa, Marco Iosa, Cristiano Maria Verrelli, Amalia Egle Gentile, Martino Ruggieri, Agata Polizzi

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Klippel-Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review by Piero Pavone, Lidia Marino, Giovanni Cacciaguerra, Alessandra Di Nora, Enrico Parano, Giuseppe Musumeci, Martino Ruggieri, Agata Polizzi, Raffaele Falsaperla

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Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network by Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, Dario Roccatello, Savino Sciascia, Elisa Menegatti, Giuseppe Remuzzi, Erica Daina, Paraskevas Iatropoulos, Bruno Bembi, Rosalia Maria Da Riol, Alessandra Ferlini, Marcella Neri, Giuseppe Novelli, Federica Sangiuolo, Francesco Brancati, Domenica Taruscio

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