Development of a multiplex RT-qPCR using the drop out strategy to screen the SARS-CoV-2 South African 501Y.V2 variant

por Maclot, François, Bontems, Sébastien, Meex, Cécile, Artesi, Maria, Beckers, Pablo, Bours, Vincent, Durkin, Keith, Hayette, Marie-Pierre
Publicado 2021

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

por Beckers, Pablo, Caberg, Jean-Hubert, Dideberg, Vinciane, Dangouloff, Tamara, den Dunnen, Johan T., Bours, Vincent, Servais, Laurent, Boemer, François
Publicado 2021

Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa

por Gordon, Debra M, Beckers, Pablo, Castermans, Emilie, Neggers, Sebastian J C M M, Rostomyan, Liliya, Bours, Vincent, Petrossians, Patrick, Dideberg, Vinciane, Beckers, Albert, Daly, Adrian F
Publicado 2021

Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess

por Hannah-Shmouni, Fady, Trivellin, Giampaolo, Beckers, Pablo, Karaviti, Lefkothea P., Lodish, Maya, Tatsi, Christina, Adesina, Adekunle M., Adamidou, Fotini, Mintziori, Gesthimani, Josefson, Jami L., Quezado, Martha, Stratakis, Constantine A.
Publicado 2022

The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene

por Vroonen, Laurent, Beckers, Albert, Camby, Severine, Cuny, Thomas, Beckers, Pablo, Jaffrain-Rea, Marie-Lise, Cogne, Muriel, Naves, Luciana, Ferriere, Amandine, Romanet, Pauline, Elenkova, Atanaska, Karhu, Auli, Brue, Thierry, Barlier, Anne, Pétrossians, Patrick, Daly, Adrian F.
Publicado 2023

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

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