Asian Science Citation Index - Articles written by H van Bokhoven

Articles by H van Bokhoven (2)

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

E Morava, R. A Wevers, V Cantagrel, L. H Hoefsloot, L Al Gazali, J Schoots, A van Rooij, K Huijben, C. M. A van Ravenswaaij Arts, M. C. J Jongmans, J Sykut Cegielska, G. F Hoffmann, P Bluemel, M Adamowicz, J van Reeuwijk, B. G Ng, J. E. H Bergman, H van Bokhoven, C Korner, D Babovic Vuksanovic, M. A Willemsen, J. G Gleeson, L Lehle, A. P. M de Brouwer and D. J. Lefeber

Brain 133 ( 11 ): 3210 - 3220 , 2010

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

S. T Cliffe, J. M Kramer, K Hussain, J. H Robben, E. K de Jong, A. P de Brouwer, E Nibbeling, E. J Kamsteeg, M Wong, J Prendiville, C James, R Padidela, C Becknell, H van Bokhoven, P. M.T Deen, R. C.M Hennekam, R Lindeman, A Schenck, T Roscioli and M. F. Buckley

Human Molecular Genetics 18 ( 12 ): 2257 - 2265 , 2009