Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance
Smid, B.E., Hollak, C.E.M., Poorthuis, B.J.H.M., van den Bergh Weerman, M.A., Florquin, S., Kok, W.E.M., Lekanne Deprez, R.H., Timmermans, J., Linthorst, G.E.
Published in Clinical genetics (01.08.2015)
Published in Clinical genetics (01.08.2015)
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Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation
Bouwman, MG, Rombach, SM, Linthorst, GE, Poorthuis, BJHM, Lekanne Deprez, RH, Aerts, JMFG, Wijburg, FA
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma
Lekanne Deprez, R H, Riegman, P H, Groen, N A, Warringa, U L, van Biezen, N A, Molijn, A C, Bootsma, D, de Jong, P J, Menon, A G, Kley, N A
Published in Oncogene (20.04.1995)
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Published in Oncogene (20.04.1995)
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Gene symbol: GLA
Spanu, Costel, Lekanne dit Deprez, R H, Groener, J E M, Nita, C C
Published in Human genetics (01.04.2007)
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Published in Human genetics (01.04.2007)
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Constitutional DNA-level aberrations in chromosome 22 in a patient with multiple meningiomas
LeKanne Deprez, R H, Groen, N A, Louz, D, Hagemeijer, A, van Drunen, E, Koper, J W, Avezaat, C J, Bootsma, D, van der Kwast, T H, Zwarthoff, E C
Published in Genes chromosomes & cancer (01.02.1994)
Published in Genes chromosomes & cancer (01.02.1994)
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Individuals with only one allele for a functional insulin receptor have a tendency to hyperinsulinaemia but not to hyperglycaemia
Lekanne Deprez, R H, Potter van Loon, B J, van der Zon, G C, Möller, W, Lindhout, D, Klinkhamer, M P, Krans, H M, Maassen, J A
Published in Diabetologia (01.10.1989)
Published in Diabetologia (01.10.1989)
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