drs. M.C. (Merel) Maiburg

drs. M.C. (Merel) Maiburg

Assistant Professor - medical
  • Section Clinical Genetics

Research Programs


Research Output (17)

Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3’ MECOM

van der Veken Lars T., Maiburg Merel C., Groenendaal Floris, van Gijn Mariëlle E., Bloem Andries C., Erpelinck Claudia, Gröschel Stefan, Sanders Mathijs A., Delwel Ruud, Bierings Marc B., Buijs Arjan 8 Feb 2018, In: Haematologica. 103 , p. e173-e176

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; A case-control study Medical Genetics

Potjer Thomas P., Van Der Stoep Nienke, Houwing-Duistermaat Jeanine J., Konings Ingrid C A W, Aalfs Cora M., Van Den Akker Peter C., Ausems Margreet G., Dommering Charlotte J., Van Der Kolk Lizet E., Maiburg Merel C., Spruijt Liesbeth, Wagner Anja, Vasen Hans F A, Hes Frederik J. 26 Jun 2015, In: BMC Research Notes. 8

Genetic heterogeneity and clinical variability in musculocontractural ehlers-danlos syndrome caused by impaired dermatan sulfate biosynthesis

Syx Delfien, Van Damme Tim, Symoens Sofie, Maiburg Merel C., van de Laar Ingrid, Morton Jenny, Suri Mohnish, Del campo Miguel, Hausser Ingrid, Hermanns-Lê Trinh, De Paepe Anne, Malfait Fransiska 1 May 2015, In: Human Mutation. 36 , p. 535-547 13 p.

Novel 3q26 EVI1/MECOM deletion syndrome in a newborn with multiple severe congenital abnormalities and bone marrow failure

van der Veken L.T.J.N., Bierings M.B., Maiburg M.C., Groenendaal F., Bloem A.C., Knoers N.V.A.M., Buijs A. 13 Jun 2013,

The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

Maiburg M.C., Repping S., Giltay J.C. 2013, In: Fertility and Sterility. 98 , p. 253-260 8 p.

Novel Bone Marrow Failure Syndrome Due to a Deletion of the EVI1/Mecom

van der Veken L.T.J.N., Bierings M.B., Maiburg M.C., Groenendaal F., Bloem A.C., Knoers N.V.A.M., Buijs A. 8 Dec 2012,

Deletions of SIX1 and UPK3A may contribute to a renal phenotype in syndromal patients

van Eerde A.M., van Binsbergen E., Konijnenberg A.Y., Maiburg M.C., Lichtenbelt K.D., Nikkels P.G.J., van der Smagt J.J., Renkema K.Y., Giltay J.C., de Jong T.P.V.M., Lilien M.R., Knoers V.V.A.M. 24 May 2012,

A diagnosis of X-linked Opitz G/BBB syndrome by array-CGH in a boy and a girl

Maiburg M.C., van Binsbergen E., Brilstra E.H., Terhal P.A. 28 May 2011,

Attitudes of Klinefelter men and their relatives towards TESE-ICSI

Maiburg M.C., Hoppenbrouwers A.C., van Stel H.F., Giltay J.C. 2011, In: Journal of Assisted Reproduction and Genetics. 28 , p. 809-814 5 p.

Do Klinefelter men want TESE-ICSI?

Maiburg M.C., Hoppenbrouwers A., Giltay J.C. 19 Nov 2010,

All research output

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