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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
DDD Study & The DDD Study, 1 Aug 2023, In: Genetics in medicine. 25, 8, p. 100856 100856.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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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
on behalf of RADICON-NL consortium, Jun 2023, In: European journal of pediatrics. 182, 6, p. 2683-2692 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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