Stefania Bigoni - Dissemin

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All papers authored by Stefania Bigoni

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2022 Daphné Lehalle

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, Ange‐Line Bruel

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, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon

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, Yannis Duffourd, Mirna Assoum, Jeanne Amiel, Geneviève Baujat, Bettina Bessieres, Stefania Bigoni

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, Lydie Burglen, Guillaume Captier, Rodolphe Dard, Patrick Edery, Fernanda Fortunato and 27 other authors

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

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2021 Mariateresa Di Stazio, Stefania Bigoni

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, Nicola Iuso, Josef Vuch

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, Rita Selvatici

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, Sheila Ulivi, Pio Adamo d’Adamo

Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

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Andrea Ciorba, Virginia Corazzi, Michela Melegatti, Anna Morgan, Giulia Pelliccione, Giorgia Girotto, Stefania Bigoni

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Non-syndromic sensorineural prelingual and postlingual hearing loss due to col11a1 gene mutation

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