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

מאת Maarschalk-Ellerbroek, L. J., Hoepelman, A. I. M., van Montfrans, J. M., Ellerbroek, P. M.
יצא לאור 2012

T cell response to viral antigens in adults and children with common variable immunodeficiency and specific antibody deficiency

מאת Haveman, L M, Scherrenburg, J, Maarschalk-Ellerbroek, L J, Hoek, P D, Schuurman, R, de Jager, W, Ellerbroek, P M, Prakken, B J, van Baarle, D, van Montfrans, J M
יצא לאור 2010

Airway and interstitial lung disease are distinct entities in paediatric common variable immunodeficiency

מאת van de Ven, A A J M, de Jong, P A, van Konijnenburg, D P Hoytema, Kessels, O A M, Boes, M, Sanders, E A M, Terheggen-Lagro, S W J, van Montfrans, J M
יצא לאור 2011

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

מאת 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.
הוצא לאור ב Hum Genet (2017)

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

מאת 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
הוצא לאור ב Pediatr Rheumatol Online J (2015)