PW02-034 - NLRP3 mosaicism detection in CAPS using NGS

Por Stoffels, M, Elferink, M, van Zon, P, Frenkel, J, Hoppenreijs, E, Simon, A, van Gijn, M
Publicado em 2013

De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer

Por van der Luijt, R. B, van Zon, P. H A, Jansen, R., van der Sijs-Bos, C. J M, Warlam-Rodenhuis, C., Ausems, M.
Publicado em 2001

Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands

Por Elferink, MG, van Zon, P, Frenkel, J, Harts, W, Simon, A, van Royen-Kerkhof, A, Swart, J, van Amstel, H-K Ploos, van Gijn, M
Publicado no Pediatr Rheumatol Online J (2015)

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

Por Hochstenbach, R., Page-Christiaens, G. C. M. L., van Oppen, A. C. C., Lichtenbelt, K. D., van Harssel, J. J. T., Brouwer, T., Manten, G. T. R., van Zon, P., Elferink, M., Kusters, K., Akkermans, O., Ploos van Amstel, J. K., Schuring-Blom, G. H.
Publicado no Case Rep Genet (2015)