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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

Bilateraal cataract op de kinderleeftijd: altijd een indicatie voor aanvullend onderzoek naar stofwisselingsziekten.

Wijburg M.T., Mailette de Buy Wenniger-Prick L.J., Bosch A.M., Bams-Mengerink A., Visser G. 2008, In: Nederlands Tijdschrift voor Geneeskunde. 152 , p. 632-636 5 p.

Abnormal neurotransmitters: pitfall in the diagnosis of Rett syndrome

de Ruijter J, Engbers H.M., de Sain - van der Velden M., Wevers M.R., van Daalen E., Gooskens R.H.J.M., Visser G. 2008, p. 136-136 1 p.

SNP array based segmental aneuploidy screening reveals frequent 22q11 duplications in patients with non-syndromic autism spectrum disorders

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., Staal W.G., Vorstman J.A.S., de Jonge M.V., Ippel P.F., van den Boogaard M.J.H., Beemer F.A., van der Smagt J.J., Brilstra E.H., Terhal P.A., Visser G., Jalali G.R., Emanuel B.S., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach P.F.R. 23 Oct 2007,

Monitoring cholesterol precursors in siblings with cerebrotendinous xanthomatosis:A follow up

de Sain-van der Velden M. G. M., Prinsen H. C. M. T., Verrips A., Verhoeven-Duif N. M., Dorland L., de Barse M., Berger R., De Koning T. J., Visser G. Aug 2007, In: Journal of Inherited Metabolic Disease. 30 , p. 125-125 1 p.

The diagnostic value of exercise testing in patients with exercise intolerance

Ernsting C.G., Visser G., van Hasselt P.M., Prinsen H.C.M.T., Hulzebos H.J., Takken T. 2007, p. 140-140 1 p.

Van gen naar ziekte; de ziekte van Menkes: koperdeficiëntie door een ATP7A-gendefect

Aldenhoven M., Klomp L.W.J., van Hasselt P.M., de Koning T.J., Visser G. 2007, In: Nederlands Tijdschrift voor Geneeskunde. 41 , p. 2266-2270 5 p.

A novel microdeletion in 1 (p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

Vermeer S., Koolen A., Visser G., Brackel H.J.L., Burgt, van der I., de Leeuw N., Willemsen M.A.A.P., Sistermans E.A., Pfundt R., de Vries B.B.A. 2007, In: Developmental Medicine and Child Neurology. 49 , p. 380-384 5 p.

Disorders of carbohydrate and glycogen metabolism

Rake Jan Peter, Visser Gepke, Smit G. Peter A. 1 Dec 2006, p. 161-180 20 p.

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

Martens D. H.J., Kuijpers T. W., Maianski N. A., Rake J. P., Smit G. P.A., Visser G. 1 Feb 2006, In: Journal of Inherited Metabolic Disease. 29 , p. 224-225 2 p.

A patient with common glycogen storage disease type 1b mutations without neuropenia or neutrophil dysfunction

Martens D.H.J., Kuijpers T.W., Maianski N.A., Rake J.P., Smit G.P.A., Visser G. 2006, In: Journal of Inherited Metabolic Disease. 29 , p. 224-225 2 p.

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