Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients

por Odendaal, Christoff, Jager, Emmalie A., Martines, Anne-Claire M. F., Vieira-Lara, Marcel A., Huijkman, Nicolette C. A., Kiyuna, Ligia A., Gerding, Albert, Wolters, Justina C., Heiner-Fokkema, Rebecca, van Eunen, Karen, Derks, Terry G. J., Bakker, Barbara M.
Publicado 2023

Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

por Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, de Carvalho, Daniel Rocha, de Rizzo, Isabela Maria Pinto Oliveira, de Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, van Scherpenzeel, Monique, Janssen, Mirian, de Boer, Lonneke, van den Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
Publicado 2022