• Universiteitssingel50, UNS50

    6229 ER Maastricht

    Netherlands

Research Output

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Editorial
2019

Leveraging genomic diversity to promote human and animal health

Ramsay, M., Brunner, H. G. & Djikeng, A., 11 Dec 2019, In : Communications Biology. 2, 4 p., 463.

Research output: Contribution to journalEditorialAcademicpeer-review

Open Access

Rett syndrome and developmental regression

Smeets, E. E., Townend, G. S. & Curfs, L. M. G., Sep 2019, In : Neuroscience and Biobehavioral Reviews. 104, p. 100-101 2 p.

Research output: Contribution to journalEditorialAcademicpeer-review

2018

2017 Curt Stern Award Introduction: Nico Katsanis

Brunner, H. G., 1 Mar 2018, In : American Journal of Human Genetics. 102, 3, p. 354-354 1 p.

Research output: Contribution to journalEditorialAcademicpeer-review

2017

Healthy children without fear: Reproductive options for patients or couples carrying inherited diseases

Geraedts, J., May 2017, In : Embo Reports. 18, 5, p. 666-669 4 p.

Research output: Contribution to journalEditorialAcademicpeer-review

The annual meeting 1988-2017

Brunner, H., Dec 2017, In : European Journal of Human Genetics. 25, p. S35-S36 2 p.

Research output: Contribution to journalEditorialAcademicpeer-review

Open Access
2016

Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma

Parren, L. J. M. T., Munte, K., Winnepenninckx, V., van Geel, M., Steijlen, P. M., Frank, J. & van Steensel, M. A. M., Aug 2016, In : Clinical and Experimental Dermatology. 41, 6, p. 682-684

Research output: Contribution to journalEditorialAcademicpeer-review

Developing research, policy and practice in palliative care for people with intellectual disabilities will benefit everyone

Tuffrey-Wijne, I., Curfs, L. & Deliens, L., Jul 2016, In : Palliative Medicine. 30, 7, p. 613-615

Research output: Contribution to journalEditorialAcademicpeer-review

Locally advanced basal cell carcinoma has a distinct methylation and transcriptomic profile

Brinkhuizen, T., van Geel, M., Denil, S. L. I. J., De Meyer, T., Kelleners-Smeets, N. W. J., Lohuis, P. J. F. M., Hoebers, F. J. P., Winnepenninckx, V. J. L., van Steensel, M. A. M. & Mosterd, K., Apr 2016, In : Experimental Dermatology. 25, 4, p. 316-318

Research output: Contribution to journalEditorialAcademicpeer-review

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

van Rij, M. C., Jansen, F. A. R., Hellebrekers, D. M. E. I., Onkenhout, W., Smeets, B., Hendrickx, A. T., Gottschalk, R. W. H., Steggerda, S. J., Peeters-Scholte, C. M. P. C. D., Haak, M. C. & Hilhorst-Hofstee, Y., Apr 2016, In : Clinical Case Reports. 4, 4, p. 425-428

Research output: Contribution to journalEditorialAcademicpeer-review

Open Access