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 2015

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management...

por Hitzert, M. M., van der Crabben, S. N., Baldewsingh, G., van Amstel, H. K. Ploos, van den Wijngaard, A., van Ravenswaaij-Arts, C. M. A., Zijlmans, C. W. R.
Publicado 2019