Francesca Romana Lepri
12PUBLICATIONS
25CO-AUTHORS
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Publications (12)
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|Nov 17, 2025
Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B.Francesca Romana Lepri, Ludovico Graziani, Lucia Menale
|Jul 18, 2025
Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).Piero Leone, Alessia Nisco, Luciana de Gennaro
|Jan 31, 2025
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede
|Dec 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patients.Maria Cristina Digilio, Giulio Calcagni, Maria Gnazzo
|Mar 22, 2021
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.Mattia Gentile, Tiziana Fanelli, Francesca Romana Lepri
|Mar 04, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patients.Maria Gnazzo, Francesca R Lepri, Maria Lisa Dentici
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Frequent Collaborators
4 joint publications
Anwar Baban
3 joint publications
Maria Lisa Dentici
2 joint publications
Silvia Genovese
2 joint publications
Maria Cristina Digilio
1 joint publications
Josefina Chinton
1 joint publications
Arianna Maiorana
1 joint publications
Emanuele Agolini
1 joint publications
Paolo Versacci
1 joint publications
Paolo Alfieri
1 joint publications
Ivan Ivanovski
