The Importance of Digging into the Genetics of <i>SMN</i> Genes in the Therapeutic Scenario of Spinal Muscular Atrophy

by Mar Costa-Roger, Laura Blasco-Pérez, Ivon Cuscó, Eduardo F. Tizzano
Published 2021-08-01

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

by Jacques G. Rivière, Jacques G. Rivière, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov, María Antolín, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran
Published 2020-02-01

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

by François Boemer, Jean-Hubert Caberg, Pablo Beckers, Vinciane Dideberg, Samantha di Fiore, Vincent Bours, Sandrine Marie, Joseph Dewulf, Lionel Marcelis, Nicolas Deconinck, Aurore Daron, Laura Blasco-Perez, Eduardo Tizzano, Mickaël Hiligsmann, Jacques Lombet, Tatiana Pereira, Lucia Lopez-Granados, Sarvnaz Shalchian-Tehran, Véronique van Assche, Arabelle Willems, Sofie Huybrechts, Bénédicte Mast, Rudolf van Olden, Tamara Dangouloff, Laurent Servais
Published 2021-10-01