The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review by Marialuigia Spinelli, Carmine Sica, Bruno Dallapiccola, Antonio Novelli, Letizia Di Meglio, Pasquale Martinelli

Get full text

Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2 by Patrizia Malaspina, Carla Jodice, Bianca Maria Ciminelli, Michela Biancolella, Vito Luigi Colona, Andrea Latini, Francesca Leonardis, Paola Rogliani, Antonio Novelli, Giuseppe Novelli, Andrea Novelletto

Get full text

Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics by Maria Gnazzo, Giovanni Parlapiano, Francesca Di Lorenzo, Daniele Perrino, Silvia Genovese, Valentina Lanari, Daniela Righi, Federica Calì, Massimo Stefano Silvetti, Elena Falcone, Alessia Bauleo, Fabrizio Drago, Antonio Novelli, Anwar Baban

Get full text

Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine by Katarina Šikić, Tessa M. A. Peters, Udo Engelke, Danijela Petković Ramadža, Tamara Žigman, Ksenija Fumić, Maša Davidović, Sanda Huljev Frković, Tibor Körmendy, Diego Martinelli, Antonio Novelli, Francesca Romana Lepri, Ron A. Wevers, Ivo Barić

Get full text

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project by Christina Saier, Stefaan Sansen, Joanne Berghout, Kathrin Freyler, Moshe Einhorn, Yaron Einhorn, Leslie Matalonga, Sergi Beltran, Antonio Novelli, Rita Selvatici, Fernanda Fortunato, Silvia Montanari, Maria Martinez-Fresno, Gulcin Gumus, Emanuele Agolini, Nicolas Garnier, Alessandra Ferlini, Enrico Bertini, Janbernd Kirschner

Get full text