Paolo Fontana (P Fontana)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 5

Top Venues

Clinical genetics

American journal of medical genetics. Part A

Genes

Journal of pediatric genetics

Azienda Ospedaliera Gaetano Rummo

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

Affiliation History

Azienda Ospedaliera Gaetano Rummo Nov 16 2018

Italy

Medical doctor :: Medical Genetics

Publications

Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza, Alessandra D'Amico, Fortunato Lonardo, Vincenzo Nigro, Giuseppe Limongelli, Gioacchino Scarano
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect. Genes 14 (7) (2023)
Maria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, Carla Cesarano, Maria Cristina Digilio, Monia Magliozzi, Daniela Rogaia, Amedea Mencarelli, Chiara Leoni, Carmelo Piscopo, Valentina Imperatore, Maria Teresa Falco, Paolo Fontana, Anna Maria Nardone, Antonio Novelli, Stefania Troiani, Marco Seri, Paolo Prontera
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype. American journal of medical genetics. Part A 185 (4) (2021)
Paolo Fontana, Laura Bernardini, Cinzia Lombardi, Maria Grazia Giuffrida, Maria Ciavarella, Anna Capalbo, Marianna Maioli, Francesca Scarano, Giuseppina Cantalupo, Mariateresa Falco, Gioacchino Scarano, Fortunato Lonardo
De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies. Journal of pediatric genetics 10 (3) (2020)
Lorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, Paolo Fontana, Alma Kuechler, Genevieve Baujat, Barbara Torres, Judith Koetting, Alessandra Splendiani, Diana Postorivo, Jasmin Beygo, Francesco G Garaci, Valerie Malan, Hermann-Josef Lüdecke, Valentina Guida, Mandy Krumbiegel, Fortunato Lonardo, Antonio Novelli, Beate Albrecht, Chiara Perria, Gioacchino Scarano, Malte Spielmann, Annamaria M Nardone, Agatino Battaglia, Francesco Brancati, Laura Bernardini
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes. Clinical genetics 96 (3) (2019)
Paolo Fontana, M Grasso, F Acquaviva, E Gennaro, M L Galli, M Falco, F Scarano, G Scarano, Fortunato Lonardo
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly. Clinical genetics 92 (4) (2017)

Paolo Fontana.css-eqlu8i{font-size:small;padding-left:4px;} (P Fontana)

Publication Activity (10 Years)

Top Topics

Top Venues

Paolo Fontana (P Fontana)