Simone Gana

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 13

Top Topics

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Developmental medicine and child neurology

American journal of medical genetics. Part C, Seminars in medical genetics

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

Publications

Simone Gana, Marta Di Biagio, Laura Carraro, Gloria Rossetto, Laura Scarpelli, Ilaria Scognamillo, Enza Maria Valente, Sabrina Signorini
LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations? American journal of medical genetics. Part A (2024)
Davide Politano, Fulvio D'Abrusco, Ludovica Pasca, Francesca Ferraro, Simone Gana, Jessica Garau, Martina Paola Zanaboni, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis, Romina Romaniello
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature. American journal of medical genetics. Part A 194 (6) (2024)
Simone Gana, Enza Maria Valente
Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy. Developmental medicine and child neurology 66 (7) (2024)
Davide Politano, Fulvio D'Abrusco, Ludovica Pasca, Francesca Ferraro, Simone Gana, Jessica Garau, Martina Paola Zanaboni, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis, Romina Romaniello
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature. American journal of medical genetics. Part A (2024)
Davide Politano, Fulvio D'Abrusco, Ludovica Pasca, Francesca Ferraro, Simone Gana, Jessica Garau, Martina Paola Zanaboni, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis, Romina Romaniello
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature. American journal of medical genetics. Part A 194 (6) (2024)
Simone Gana, Enza Maria Valente
Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy. Developmental medicine and child neurology 66 (7) (2024)
Simone Gana, Enza Maria Valente
Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy. Developmental medicine and child neurology 66 (7) (2024)
Simone Gana, Enza Maria Valente
Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy. Developmental medicine and child neurology (2024)
Davide Politano, Fulvio D'Abrusco, Ludovica Pasca, Francesca Ferraro, Simone Gana, Jessica Garau, Martina Paola Zanaboni, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis, Romina Romaniello
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature. American journal of medical genetics. Part A 194 (6) (2024)
Simone Gana, Valentina Serpieri, Elisa Giorgio, Melanie Iorio, Elisa Rognone, Anna Pichiecchio, Matteo Chiappedi, Enza Maria Valente
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder. American journal of medical genetics. Part A (2023)
Simone Gana, Valentina Serpieri, Enza Maria Valente
Genotype-phenotype correlates in Joubert syndrome: A review. American journal of medical genetics. Part C, Seminars in medical genetics 190 (1) (2022)
Alessandro Borghesi, Massimo Plumari, Elena Rossi, Claudia Viganò, Rosa Maria Cerbo, Alessia Claudia Codazzi, Enza Maria Valente, Simone Gana
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum. American journal of medical genetics. Part A (2021)
Simone Gana, Massimo Plumari, Elena Rossi, Annalisa Saracino, Melanie Iorio, Martina Paola Zanaboni, Simona Orcesi, Enza Maria Valente
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome. American journal of medical genetics. Part A 182 (11) (2020)