Amsterdam Reproduction & Development
-
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy
Al-Saady, M. L., Kaiser, C. S., Wakasuqui, F., Korenke, G. C., Waisfisz, Q., Polstra, A., Pouwels, P. J. W., Bugiani, M., van der Knaap, M. S., Lunsing, R. J., Liebau, E. & Wolf, N. I., 1 Dec 2021, In: Neuropediatrics. 52, 6, p. 489-494 6 p.Research output: Contribution to journal › Article* › Academic › peer-review
-
5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome
Bayat, A., Bayat, M., Broers, C., Polstra, A. M., Zwijnenburg, P. J. G. & Hjortshøj, T. D., Dec 2021, In: American journal of medical genetics. Part A. 185, 12, p. 3844-3850 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
-
Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report
Tacke, C. E., Terheggen-Lagro, S. W. J., Boot, A. M., Plomp, A. S., Polstra, A. M., van Rijn, R. R., Struijs, P. A. A., van den Berg, H. & Mooij, C. F., 1 Jun 2021, In: Bone reports. 14, 101067.Research output: Contribution to journal › Article* › Academic › peer-review
- All publications