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ir. O.P.P. van den Briels

ir. O.P.P. van den Briels

Assistant Professor - medical

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Research Output (86)

MSX1 and partial anodontia, orofacial clefting and the Witkop syndrome

van den Boogaard M.J.H. 2004, p. 557-567 11 p.

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

Gong Y, Slee RB, Letteboer T.G.W., van den Boogaard M.J.H., et al. X 2001, In: Cell. 107 , p. 513-523 11 p.

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

van den Boogaard M.J.H., Dorland M., Beemer F.A., Ploos van Amstel J.K. 2000, In: Nature Genetics. 24 , p. 342-343 2 p.

Hydrogen solubility in amorphous silicon

Acco S., Williamson D., Stolk P.A., Saris F.W., van den Boogaard M.J.H., Sinke W.C., van der Weg W., Roorda S., Zalm P.C. 1996, In: Physical review. B, condensed matter. 53 , p. 4415-4427 13 p.

Genotype‐phenotype correlation in adult‐onset acid maltase deficiency

Wokke John H.J., Ausems Margreet G.E.M., van den Boogaard Marie‐José H., Ippel Elly F., van Diggelen Otto, Kroos Marian A., Boer Marijke, Jennekens Frans G.I., Reuser Arnold J.J., van Amstel Hans Kristian Ploos 1 Jan 1995, In: Annals of Neurology. 38 , p. 450-454 5 p.

Glycogen storage disease type II:Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

Kroos M. A., Van Der Kraan M., Van Diggelen O. P., Kleijer W. J., Reuser A. J.J., Van Den Boogaard M. J., Ausems M. G.E.M., Van Amstel H. K.Ploos, Poenaru L., Nicolino M., Wevers R. 1 Jan 1995, In: Journal of Medical Genetics. 32 , p. 836-837 2 p.

Identification of two new nucleotide mutations (HPRT<sub>Utrecht</sub> and HPRT<sub>Madrid</sub>) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene

Bouwens-Rombouts Anne G.M., van den Boogaard Marie Jose H., Puig Juan G., Mateos Felicitas A., Hennekam Raoul C.M., Tilanus Marcel G.J. 1 Jun 1993, In: Human Genetics. 91 , p. 451-454 4 p.

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

Breuning M. H., Dauwerse H. G., Fugazza G., Saris J. J., Spruit L., Wijnen H., Tommerup N., Van der Hagen C. B., Imaizumi K., Kuroki Y., Van den Boogaard - M. J., De Pater J. M., Mariman E. C.M., Hamel B. C.J., Himmelbauer H., Frischauf - A. M., Stallings R. L., Beverstock G. C., Van Ommen G. J.B., Hennekam R. C.M. 1 Jan 1993, In: American Journal of Human Genetics. 52 , p. 249-254 6 p.

The Peters'-Plus syndrome:description of 16 patients and review of the literature

Hennekam R. C.M., Van Schooneveld M. J., Ardinger H. H., Van den Boogaard M. J.H., Friedburg D., Rudnik-Schoneborn S., Seguin J. H., Weatherstone K. B., Wittebol-Post D., Meinecke P. 1 Jan 1993, In: Clinical dysmorphology. 2 , p. 283-300 18 p.

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