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Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Rumping, L., Wessels, M. W., Postma, A. V., van Schuppen, J., van Slegtenhorst, M. A., Saris, J. J., van Tintelen, J. P., Robertson, S. P., Alders, M., Maas, S. M. & Deprez, R. H. L., Dec 2021, In: American journal of medical genetics. Part A. 185, 12, p. 3814-3820 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Jeanne, M. D., Demory, H. L., Moutal, A., Vuillaume, M.-L., Blesson, S., Thépault, R.-A., Marouillat, S., Halewa, J., Maas, S. M., Motazacker, M. M., Mancini, G. M. S., van Slegtenhorst, M. A., Andreou, A., Cox, H., Vogt, J., Laufman, J., Kostandyan, N., Babikyan, D., Hancarova, M. & Bendova, S. & 21 others, , 6 May 2021, In: American journal of human genetics. 108, 5, p. 951-961 11 p.Research output: Contribution to journal › Article* › Academic › peer-review
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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Verberne, E. A., Goh, S., England, J., van Ginkel, M., Rafael-Croes, L., Maas, S., Polstra, A., Zarate, Y. A., Bosanko, K. A., Pechter, K. B., Bedoukian, E., Izumi, K., Chaudhry, A., Robin, N. H., Boothe, M., Lippa, N. C., Aggarwal, V., de Vivo, D. C., Lehman, A. & Study, C. & 20 others, , Feb 2021, In: Genetics in medicine. 23, 2, p. 374-383 10 p.Research output: Contribution to journal › Article* › Academic › peer-review
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