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De novo SPAST mutations may cause a complex SPG4 phenotype
Schieving, J. H., de Bot, S. T., van de Pol, L. A., Wolf, N. I., Brilstra, E. H., Frints, S. G., van Gaalen, J., Misra-Isrie, M., Pennings, M., Verschuuren-Bemelmans, C. C., Kamsteeg, E.-J., van de Warrenburg, B. P. & Willemsen, M. A., 1 Jul 2019, In: Brain. 142, 7, p. e31Research output: Contribution to journal › Article* › Academic › peer-review
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Development, behaviour and autism in individuals with SMC1A variants
SMC1A Consortium, 2018, In: Journal of child psychology and psychiatry, and allied disciplines. 60, 3, p. 305-313 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Phenotypes and genotypes in individuals with SMC1A variants
Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A.-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., Fitzpatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y. & Hopman, S. & 28 others, , 1 Aug 2017, In: American journal of medical genetics. Part A. 173A, 8, p. 2108-2125 18 p.Research output: Contribution to journal › Article* › Academic › peer-review
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