Researchers Merel Maiburg

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Merel Maiburg

Assistant Professor - medical

Strategic program(s):

Strategic program(s):

Contact

mmaibur2@umcutrecht.nl

Recent publications

All publications

Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3’ MECOM Lars T. van der Veken, Merel C. Maiburg, Floris Groenendaal, Mariëlle E. van Gijn, Andries C. Bloem, Claudia Erpelinck, Stefan Gröschel, Mathijs A. Sanders, Ruud Delwel, Marc B. Bierings, Arjan Buijs
Haematologica, 2018, vol. 103, p.e173-e176

Genetic heterogeneity and clinical variability in musculocontractural ehlers-danlos syndrome caused by impaired dermatan sulfate biosynthesis Delfien Syx, Tim Van Damme, Sofie Symoens, Merel C. Maiburg, Ingrid van de Laar, Jenny Morton, Mohnish Suri, Miguel Del campo, Ingrid Hausser, Trinh Hermanns-Lê, Anne De Paepe, Fransiska Malfait
Human Mutation, 2015, vol. 36, p.535-547

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; A case-control study Medical Genetics Thomas P. Potjer, Nienke Van Der Stoep, Jeanine J. Houwing-Duistermaat, Ingrid C A W Konings, Cora M. Aalfs, Peter C. Van Den Akker, Margreet G. Ausems, Charlotte J. Dommering, Lizet E. Van Der Kolk, Merel C. Maiburg, Liesbeth Spruijt, Anja Wagner, Hans F A Vasen, Frederik J. Hes
BMC Research Notes, 2015, vol. 8

The genetic origin of Klinefelter syndrome and its effect on spermatogenesis M.C. Maiburg, S. Repping, J.C. Giltay
Fertility and Sterility, 2013, vol. 98, p.253-260

Novel 3q26 EVI1/MECOM deletion syndrome in a newborn with multiple severe congenital abnormalities and bone marrow failure L.T.J.N. van der Veken, M.B. Bierings, M.C. Maiburg, F. Groenendaal, A.C. Bloem, N.V.A.M. Knoers, A. Buijs
2013

Novel Bone Marrow Failure Syndrome Due to a Deletion of the EVI1/Mecom L.T.J.N. van der Veken, M.B. Bierings, M.C. Maiburg, F. Groenendaal, A.C. Bloem, N.V.A.M. Knoers, A. Buijs
2012