Research output per year
Research output per year
Research output
Search results
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2023
Homozygous KIAA0586 Variant in short-rib thoracic dysplasia 14 with polydactyly in a foetus: why the foetal pathologist remains irreplaceable
Vanden Eynde, N. E. M., Vantroys, E., Poelsler, L., Kang, X., LECOMTE, S., RABINOWITCH, J., Keymolen, K., Hes, F. J., Dimitrov, B. & Van Berkel, K., 19 Jun 2023.Research output: Unpublished contribution to conference › Poster
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Immunomodulatory therapy helps patient with biallelic FLG variants become less itchy
Uyttebroeck, S., Reynaert, V., Gheldof, A., Poelsler, L., Keymolen, K., Hes, F. J. & Van de Voorde, S. R., 17 Mar 2023. 1 p.Research output: Unpublished contribution to conference › Poster
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Immunomodulatory therapy helps patient with biallelic FLG variants feel less itchy
Uyttebroeck, S., Reynaert, V., Gheldof, A., Poelsler, L., Keymolen, K., Hes, F. J. & Van de Voorde, S. R., 17 Mar 2023, (Unpublished).Research output: Unpublished contribution to conference › Poster
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Predictive heatmap in Preimplantation Genetic Testing for Monogenic disorders (PGT-M) and Structural Rearrangements (PGT-SR)
Van Der Kelen, A., Berckmoes, V., Keymolen, K., Poelsler, L., Cools, W., De Vos, A., De Vos, M., Blockeel, C., Fernandez Gallardo, E., De Rijcke, M., Verdyck, P., Hes, F. J. & Verpoest, W., Jun 2023, p. 709-709. 1 p.Research output: Unpublished contribution to conference › Poster
Open Access -
2021
A novel KCNK9 missense variant outside the classic p.Gly236 substitution causes Birk Barel syndrome
Uyttebroeck, S., Wassenberg, T., Michotte, A., Cooreman, R., Keymolen, K., Hes, F. J. & Poelsler, L., 17 Sep 2021.Research output: Unpublished contribution to conference › Poster
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2019
Maternal mosaicism involving different 18p (micro-)deletions transmitted as a typical 18p deletion to a patient with De Grouchy syndrome I
Poelsler, L., Locher, M., Obwegeser, M., Fauth, C., Zschocke, J. & Rudnik-Schöneborn, S., 16 Jun 2019.Research output: Unpublished contribution to conference › Poster