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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Ben-Mahmoud, A., Kishikawa, S., Gupta, V., Leach, N. T., Shen, Y., Moldovan, O., Goel, H., Hopper, B., Ranguin, K., Gruchy, N., Maas, S. M., Lacassie, Y., Kim, S-H., Kim, W-Y., Quade, B. J., Morton, C. C., Kim, C-H., Layman, L. C. & Kim, H-G., Dec 2023, In: Scientific reports. 13, 1, p. 12984 12984.Research output: Contribution to journal › Article › Academic › peer-review
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Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
van der Laan, L., Rooney, K., Haghshenas, S., Silva, A., McConkey, H., Relator, R., Levy, M. A., Valenzuela, I., Trujillano, L., Lasa-Aranzasti, A., Campos, B., Castells, N., Verberne, E. A., Maas, S., Alders, M., Mannens, M. M. A. M., van Haelst, M. M., Sadikovic, B. & Henneman, P., 1 Sept 2023, In: International journal of molecular sciences. 24, 18, 14240.Research output: Contribution to journal › Article › Academic › peer-review
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Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands
Wurfbain, L. F., Cox, I. L., van Dooren, M. F., Lachmeijer, A. M. A., Verhoeven, V. J. M., van Hagen, J. M., Heijligers, M., Klein Wassink - Ruiter, J. S., Koene, S., Maas, S. M., Veenstra - Knol, H. E., Ploos van Amstel, J. K., Massink, M. P. G., Mink van der Molen, A. B. & van den Boogaard, M-J. H., 1 Aug 2023, In: Molecular syndromology. 14, 4, p. 270-282 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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