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Correction to: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas (Nature Medicine, (2017), 23, 10, (1226-1233), 10.1038/nm.4368)
Bal, E., Park, H.-S., Belaid-Choucair, Z., Kayserili, H. L., Naville, M., Madrange, M., Chiticariu, E., Hadj-Rabia, S., Cagnard, N., Kuonen, F., Bachmann, D., Huber, M., le Gall, C., Côté, F., Hanein, S., Rosti, R. Ö., Aslanger, A. D., Waisfisz, Q., Bodemer, C. & Hermine, O. & 17 others, , Apr 2025, In: Nature Medicine. 31, 4, p. 1364 1 p.Research output: Contribution to journal › Comment/Letter to the editor* › Academic
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DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review
Kennis, M. G. P., Rots, D., Bouman, A., Ockeloen, C. W., Boelen, C., Marcelis, C. L. M., de Vries, B. B. A., Elting, M. W., Waisfisz, Q., Suri, M., Font-Montgomery, E., Peck, D. S., Donnelly, D. E., Rogers, R. C., Richardson, R., Caumes, R., Chaumette, B., Louveau, C. C., Sallevelt, S. C. E. H. & Maas, S. M. & 8 others, , 2025, (E-pub ahead of print) In: European journal of human genetics. 7702.Research output: Contribution to journal › Article* › Academic › peer-review
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Perinatal genetic diagnostic yield in a population of fetuses with the phenotype arthrogryposis multiplex congenita: a cohort study 2007–2021
Arduç, A., de Vries, J. I. P., B. Tan-Sindhunata, M., Waisfisz, Q., Pajkrt, E. & Linskens, I. H., 2025, (E-pub ahead of print) In: European journal of human genetics. 148.Research output: Contribution to journal › Article* › Academic › peer-review
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