The Spectrum of Disease Manifestations in Patients with Common Variable Immunodeficiency Disorders and Partial Antibody Deficiency in a University Hospital

por Maarschalk-Ellerbroek, L. J., Hoepelman, A. I. M., van Montfrans, J. M., Ellerbroek, P. M.
Publicado 2012

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions

por Renkema, G. H., Visser, G., Baertling, F., Wintjes, L. T., Wolters, V. M., van Montfrans, J., de Kort, G. A. P., Nikkels, P. G. J., van Hasselt, P. M., van der Crabben, S. N., Rodenburg, R. J. T.
Publicado 2017

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

por Van Montfrans, J, Hartman, E, Braun, K, Hennekam, F, Hak, A, Nederkoorn, P, Westendorp, W, Bredius, R, Kollen, W, Scholvinck, E, Legger, G, Meyts, I, Liston, A, Lichtenbelt, K, Giltay, J, Van Haaften, G, De Vries Simons, G, Leavis, H, Nierkens, S, Sanders, C, Van Gijn, M
Publicado 2015