Acro-cardio-facial syndrome

por Digilio, Maria Cristina, Dallapiccola, Bruno
Publicado 2010

Orphanet Journal of Rare Diseases: Launch Editorial

por Aymé, Ségolène, Dallapiccola, Bruno, Donnai, Dian
Publicado 2006

KBG syndrome

por Brancati, Francesco, Sarkozy, Anna, Dallapiccola, Bruno
Publicado 2006

Potential of multiomics technology in precision medicine

por Putignani, Lorenza, Gasbarrini, Antonio, Dallapiccola, Bruno
Publicado 2019

Leopard syndrome

por Sarkozy, Anna, Digilio, Maria Cristina, Dallapiccola, Bruno
Publicado 2008

Joubert Syndrome and related disorders

por Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria
Publicado 2010

Congenital heart defects in genetics syndromes

por Digilio, M Cristina, Marino, Bruno, Dallapiccola, Bruno
Publicado 2015

Mediterranean Diet and Health: Food Effects on Gut Microbiota and Disease Control

por Del Chierico, Federica, Vernocchi, Pamela, Dallapiccola, Bruno, Putignani, Lorenza
Publicado 2014

In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale

por Lauri, Antonella, Fasano, Giulia, Venditti, Martina, Dallapiccola, Bruno, Tartaglia, Marco
Publicado 2021

Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains

por Fasano, Giulia, Compagnucci, Claudia, Dallapiccola, Bruno, Tartaglia, Marco, Lauri, Antonella
Publicado 2022

Survey of medical genetic services in Italy: year 2011

por Giardino, Daniela, Mingarelli, Rita, Lauretti, Tiziana, Amoroso, Antonio, Larizza, Lidia, Dallapiccola, Bruno
Publicado 2016

The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

por Spinelli, Marialuigia, Sica, Carmine, Dallapiccola, Bruno, Novelli, Antonio, Di Meglio, Letizia, Martinelli, Pasquale
Publicado 2015

Quantification of Small Non-Coding RNAs Allows an Accurate Comparison of miRNA Expression Profiles

por Masotti, Andrea, Caputo, Viviana, Da Sacco, Letizia, Pizzuti, Antonio, Dallapiccola, Bruno, Bottazzo, Gian Franco
Publicado 2009

Obituary of Dr. Angelo Di George

por Tarani, Luigi, Digilio, Maria C, Dallapiccola, Bruno, Mc Donald-McGinn, Donna M, Marino, Bruno
Publicado 2010

Infantile cortical hyperostosis and COL1A1 mutation in four generations

por Cerruti-Mainardi, Paola, Venturi, Giacomo, Spunton, Marianna, Favaron, Elena, Zignani, Michela, Provera, Sandro, Dallapiccola, Bruno
Publicado 2011

The internet user profile of Italian families of patients with rare diseases: a web survey

por Tozzi, Alberto E, Mingarelli, Rita, Agricola, Eleonora, Gonfiantini, Michaela, Pandolfi, Elisabetta, Carloni, Emanuela, Gesualdo, Francesco, Dallapiccola, Bruno
Publicado 2013

Meta-Omic Platforms to Assist in the Understanding of NAFLD Gut Microbiota Alterations: Tools and Applications

por Del Chierico, Federica, Gnani, Daniela, Vernocchi, Pamela, Petrucca, Andrea, Alisi, Anna, Dallapiccola, Bruno, Nobili, Valerio, Lorenza, Putignani
Publicado 2014

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

por Davis, Kyle W., Serrano, Moises, Loddo, Sara, Robinson, Catherine, Alesi, Viola, Dallapiccola, Bruno, Novelli, Antonio, Butler, Merlin G.
Publicado 2019

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

por Cocciadiferro, Dario, Agolini, Emanuele, Digilio, Maria Cristina, Sinibaldi, Lorenzo, Castori, Marco, Silvestri, Evelina, Dotta, Andrea, Dallapiccola, Bruno, Novelli, Antonio
Publicado 2020

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey

por Nurchis, Mario Cesare, Raspolini, Gian Marco, Heidar Alizadeh, Aurora, Altamura, Gerardo, Radio, Francesca Clementina, Tartaglia, Marco, Dallapiccola, Bruno, Damiani, Gianfranco
Publicado 2023