Stefania Bigoni (S Bigoni)

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 6

Top Topics

Network Analysis

Prognostic Factors

End Stage Renal Disease

Top Venues

American journal of medical genetics. Part A

Journal of community genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, Elisa Rubinato, Stefania Lenarduzzi, Claudio Graziano, Livia Garavelli, Sara Miccoli, Stefania Bigoni, Anna Morgan, Giorgia Girotto
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population. Biomedicines 11 (3) (2023)
Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, Elisa Rubinato, Stefania Lenarduzzi, Claudio Graziano, Livia Garavelli, Sara Miccoli, Stefania Bigoni, Anna Morgan, Giorgia Girotto
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population. Biomedicines 11 (3) (2023)
Ludovica Aliberti, Irene Gagliardi, Stefania Bigoni, S Lupo, S Caracciolo, Alessandra Ferlini, Andrea M Isidori, Maria Chiara Zatelli, Maria Rosaria Ambrosio
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? Journal of community genetics 13 (3) (2022)
Daphne Lehalle, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Yannis Duffourd, Mirna Assoum, Jeanne Amiel, Geneviève Baujat, Bettina Bessieres, Stefania Bigoni, Lydie Burglen, Guillaume Captier, Rodolphe Dard, Patrick Edery, Fernanda Fortunato, David Geneviève, Alice Goldenberg, Laurent Guibaud, Delphine Héron, Muriel Holder-Espinasse, Damien Lederer, Fermina Lopez Grondona, Sarah Grotto, Sandrine Marlin, Gwenaël Nadeau, Arnaud Picard, Massimiliano Rossi, Joëlle Roume, Damien Sanlaville, Pascale Saugier-Veber, Stéphane Triau, Maria Irene Valenzuela Palafoll, Clémence Vanlerberghe, Lionel Van Maldergem, Myriam Vezain, Catherine Vincent-Delorme, Einat Zivi, Julien Thevenon, Pierre Vabres, Christel Thauvin-Robinet, Patrick Callier, Laurence Olivier-Faivre
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients. American journal of medical genetics. Part A 188 (7) (2022)
Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso, Josef Vuch, Rita Selvatici, Sheila Ulivi, Adamo Pio 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. Brain sciences 11 (8) (2021)
Marianna Farnè, Laura Bernardini, Anna Capalbo, Giusy Cavarretta, Barbara Torres, Mariabeatrice Sanchini, Sergio Fini, Alessandra Ferlini, Stefania Bigoni
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype. American journal of medical genetics. Part A (2021)