検索結果 - Luigia Cinque

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the... 著者: Luigia Cinque, Cristina Angeletti, Alfredo Orrico, Stefano Castellana, Lucia Ferrito, Cristina Ciuoli, Tommaso Mazza, Marco Castori, Vito Guarnieri

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Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia 著者: Debora Mariarita d’Angelo, Federico Lauriola, Luisa Silvestrini, Luigia Cinque, Marco Castori, Giulia Di Donato, Armando Di Ludovico, Saverio La Bella, Francesco Chiarelli, Cosimo Giannini, Luciana Breda

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Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma 著者: Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone, Danilo de Martino, Teresa Balsamo, Claudia Battista, Tommaso Biagini, Paolo Graziano, Marco Castori, Alfredo Scillitani, Vito Guarnieri

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MEN1 gene mutation with parathyroid carcinoma: first report of a familial case 著者: Luigia Cinque, Angelo Sparaneo, Antonio S Salcuni, Danilo de Martino, Claudia Battista, Francesco Logoluso, Orazio Palumbo, Roberto Cocchi, Evaristo Maiello, Paolo Graziano, Geoffrey N Hendy, David E C Cole, Alfredo Scillitani, Vito Guarnieri

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Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia 著者: Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri

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