HR Waterham

Affiliatie UvA Full Professor, Amsterdam Gastroenterology Endocrinology Metabolism Full Professor, Genetic Metabolic Diseases

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Ratbi, I., Falkenberg, K. D., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., Urquhart, J. E., Chandler, K. E., Williams, S. G., Roberts, N. A., El Alloussi, M., Black, G. C., Ferdinandusse, S., Ramdi, H., Heimler, A., Fryer, A., Lynch, S-A., Cooper, N., Ong, K. R., Smith, C. E. L., & 11 othersInglehearn, C. F., Mighell, A. J., Elcock, C., Poulter, J. A., Tischkowitz, M., Davies, S. J., Sefiani, A., Mironov, A. A., Newman, W. G., Waterham, H. R. & van Camp, G., 2015, In: American journal of human genetics. 97, 4, p. 535-545
Research output: Contribution to journal › Article › Academic › peer-review
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
Ebberink, M. S., Mooijer, P. A. W., Gootjes, J., Koster, J., Wanders, R. J. A. & Waterham, H. R., 2011, In: Human mutation. 32, 1, p. 59-69
Research output: Contribution to journal › Article › Academic › peer-review
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene
Ebberink, M. S., Koster, J., Visser, G., van Spronsen, F., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A. & Waterham, H. R., 2012, In: Journal of medical genetics. 49, 5, p. 307-313
Research output: Contribution to journal › Article › Academic › peer-review
All publications