Francesca Romana Lepri (Francesca Lepri, Francesca R Lepri)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2021
Publications (10 Years): 9

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

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

Publications

Mattia Gentile, Tiziana Fanelli, Francesca Romana Lepri, Angela Gentile, Paola Orsini, Paolo Volpe, Antonio Novelli, Romina Ficarella
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling. American journal of medical genetics. Part A 185 (6) (2021)
Maria Christina Digilio, Giulio Calcagni, Maria Gnazzo, Paolo Versacci, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Anwar Baban, Carolina Putotto, Paolo Alfieri, Marta Unolt, Francesca Romana Lepri, Viola Alesi, Silvia Genovesea, Antonio Novelli, Bruno Marino, Bruno Dallapiccola
Congenital heart defects in molecularly confirmed KBG syndrome patients. American journal of medical genetics. Part A 188 (4) (2021)
Maria Gnazzo, Francesca Romana Lepri, Maria Lisa Dentici, Rossella Capolino, Elisa Pisaneschi, Emanuele Agolini, Martina Rinelli, Viola Alesi, Paolo Versacci, Silvia Genovesea, Claudia Cesario, Lorenzo Sinibaldi, Anwar Baban, Andrea Bartuli, Bruno Marino, Marco Cappa, Bruno Dallapiccola, Antonio Novelli, Maria Christina Digilio
KBG syndrome: Common and uncommon clinical features based on 31 new patients. American journal of medical genetics. Part A 182 (5) (2020)
Anwar Baban, Nicole Olivini, Francesca Romana Lepri, Federica Calì, Mafalda Mucciolo, Maria C Digilio, Giulio Calcagni, Corrado di Mambro, Bruno Dallapiccola, Rachele Adorisio, Antonio Novelli, Fabrizio Drago
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review. American journal of medical genetics. Part A 179 (10) (2019)
Emanuela Ponzi, Viola Alesi, Francesca Romana Lepri, Silvia Genovese, Sara Loddo, Mafalda Mucciolo, Antonio Novelli, Carlo Dionisi-Vici, Arianna Maiorana
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. Molecular genetics & genomic medicine 7 (5) (2019)
Josefina Chinton, Victoria Huckstadt, Mafalda Mucciolo, Francesca Romana Lepri, Antonio Novelli, Luis Pablo Gravina, María Gabriela Obregon
Providing more evidence on LZTR1 variants in Noonan syndrome patients. American journal of medical genetics. Part A 182 (2) (2019)
Cristina Caciolo, Paolo Alfieri, Giorgia Piccini, Maria Cristina Digilio, Francesca Romana Lepri, Marco Tartaglia, Deny Menghini, Stefano Vicari
Neurobehavioral features in individuals with Kabuki syndrome. Molecular genetics & genomic medicine 6 (3) (2018)
Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, Ilenia Maini, Maria Elisabeth Street, Allan Bayat, Marcella Zollino, Francesca Romana Lepri, Maria Gnazzo, Edoardo Errichiello, Andrea Superti-Furga, Livia Garavelli
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. American journal of medical genetics. Part A 176 (9) (2018)
Silvia Morlino, Viola Alesi, Federica Calì, Francesca Romana Lepri, Aurelio Secinaro, Paola Grammatico, Antonio Novelli, Fabrizio Drago, Marco Castori, Anwar Baban
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. American journal of medical genetics. Part A 179 (1) (2018)

Francesca Romana Lepri.css-eqlu8i{font-size:small;padding-left:4px;} (Francesca Lepri, Francesca R Lepri)

Publication Activity (10 Years)

Top Topics

Top Venues

Francesca Romana Lepri (Francesca Lepri, Francesca R Lepri)