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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

SDHA mutations causing a multisystem mitochondrial disease:Novel mutations and genetic overlap with hereditary tumors

Renkema G. Herma, Wortmann Saskia B., Smeets Roel J., Venselaar Hanka, Antoine Marion, Visser Gepke, Ben-Omran Tawfeg, Van Den Heuvel Lambert P., Timmers Henri Jlm, Smeitink Jan A., Rodenburg Richard J T 1 Jan 2015, In: European Journal of Human Genetics. 23 , p. 202-209 8 p.

Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots

de Sain-van der Velden Monique G. M., van der Ham Maria, Jans Judith J., Visser Gepke, van Hasselt Peter M., Prinsen Hubertus C. M. T., Verhoeven-Duif NM 1 Jan 2015, In: Analytica Chimica Acta. 853 , p. 435-441 7 p.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability:expanding the mutational and clinical spectrum

Kuechler Alma, Willemsen Marjolein H., Albrecht Beate, Bacino Carlos A., Bartholomew Dennis W., van Bokhoven Hans, van den Boogaard Marie Jose H., Bramswig Nuria, Buettner Christian, Cremer Kirsten, Czeschik Johanna Christina, Engels Hartmut, van Gassen Koen, Graf Elisabeth, van Haelst Mieke, He Weimin, Hogue Jacob S., Kempers Marlies, Koolen David, Monroe Glen, de Munnik Sonja, Pastore Matthew, Reis Andre, Reuter Miriam S., Tegay David H., Veltman Joris, Visser Gepke, van Hasselt Peter, Smeets Eric E. J., Vissers Lisenka, Wieland Thomas, Wissink Willemijn, Yntema Helger, Zink Alexander Michael, Strom Tim M., Luedecke Hermann-Josef, Kleefstra Tjitske, Wieczorek Dagmar Jan 2015, In: Human Genetics. 134 , p. 97-109 13 p.

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid

Albersen Monique, Bosma M., Luykx J.J., Jans J.J.M., Bakker S.C., Strengman E., Borgdorff P.J., Keijzers P.J.M., van Dongen E.P.A., Bruins P., de Sain - van der Velden M.G.M., Visser G., Knoers Nine, Ophoff R.A., Verhoeven - Duif N.M. Aug 2014, In: American Journal of Clinical Nutrition. 100 , p. 587-592 6 p.

Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models

Diekman Eugene F., Van Weeghel Michel, Wanders Ronald J.A., Visser Gepke, Houten Sander M. 1 Jul 2014, In: FASEB Journal. 28 , p. 2891-2900 10 p.

D-lactic aciduria: an inborn error of metabolism after all

van Eerde A.M., Jans J.J.M., Lichtenbelt K.D., Duran K.J., Monroe G.R., Gerrits J., van Roosmalen M.J., van Aalderen M., Koot B., Oostendorp M., de Koning T.J., Visser G., Nijman I.J., Cuppen E.P.J.G., Knoers V.V.A.M., Verhoeven - Duif N.M., van Haaften G.W. 17 Mar 2014,

Whole exome sequencing as a diagnostic tool for complex neurological disorders

Monroe G.R., Frederix G.W.J., Savelberg S., Duran K.J., van Hasselt P.M., van Haelst M.M., Visser G., Cuppen E.P.J.G., Hövels A.M., van Haaften G.W. 5 Mar 2014,

Monosomy 20 mosaicism revealed by extensive karyotyping in blood and skin cells:Case report and review of the literature

Hochstenbach Ron, Krijtenburg Pieter Jaap, Van Der Veken Lars T., Van Der Smagt Jasper, Roeleveld-Versteegh Angelique, Visser Gepke, Terhal Paulien 1 Jan 2014, In: Cytogenetic and Genome Research. 144 , p. 155-162 8 p.

Monocarboxylate transporter 1 deficiency and ketone utilization

van Hasselt P.M., Ferdinandusse S., Monroe G.R., Ruiter J.P., Turkenburg M., Geerlings M.J., Duran K., Harakalová M., van der Zwaag B., Monavari A.A., Okur I., Sharrard M.J., Cleary M., O'Conell N., Walker V., Rubio-Gozalbo M.E., de Vries M.C., Visser G., Houwen R.H.J., van der Smagt J.J., Verhoeven - Duif N.M., Wanders R.J., van Haaften G.W. 2014, In: New England Journal of Medicine. 371 , p. 1900-1907 8 p.

Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia

de Sain - van der Velden M.G.M., van der Ham M., Verhoeven N.M., Visser G., van Hasselt P.M. 2014, In: Journal of Inherited Metabolic Disease. 37 , p. 651-652 2 p.

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