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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Undiagnosed Diseases Network, 1 Jul 2021, In: Human genetics. 140, 7, p. 1109-1120 12 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Molecular inversion probe-based sequencing of ush6a exons and splice sites as a cost-effective screening tool in ush6 and arrp cases
Reurink, J., Dockery, A., Oziębło, D., Farrar, G. J., Ołdak, M., ten Brink, J. B., Rinne, T., Yntema, H. G., Pennings, R. J. E., van den Born, L. I., Aben, M., Oostrik, J., Venselaar, H., Plomp, A. S., Khan, M. I., van Wijk, E., Cremers, F. P. M., Roosing, S. & Kremer, H., 2 Jun 2021, In: International journal of molecular sciences. 22, 12, 6419.Research output: Contribution to journal › Article* › Academic › peer-review
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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
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