G&C - Klinische Genetica — Maastricht University

A novel gain-of-function sodium channel beta 2 subunit mutation in idiopathic small fiber neuropathy
Alsaloum, M., Labau, J. I. R., Sosniak, D., Zhao, P., Almomani, R., Gerrits, M., Hoeijmakers, J. G. J., Lauria, G., Faber, C. G., Waxman, S. G. & Dib-Hajj, S., 1 Sep 2021, In: Journal of Neurophysiology. 126, 3, p. 827-839 13 p.
Research output: Contribution to journal › Article › Academic › peer-review
A resource to explore the discovery of rare diseases and their causative genes
Ehrhart, F., Willighagen, E. L., Kutmon, M., van Hoften, M., Curfs, L. M. G. & Evelo, C. T., 4 May 2021, In: Scientific data. 8, 1, 8 p., 124.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
Causes and consequences of dilated cardiomyopathy: integrating genotype and phenotype to redefine disease diagnostics and therapeutics
Verdonschot, J. A. J., 2021, Maastricht: Gildeprint Drukkerijen. 364 p.
Research output: Thesis › Doctoral Thesis › Internal

Open Access
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G&C - Klinische Genetica