Research output per year
Research output per year
Profiles
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Encarna B. Gomez Garcia
- Faculty of Health, Medicine and Life Sciences, Genetica & Celbiologie - Associate Professor
- DA KG Polikliniek - UMS
- GROW - Reproductive and Perinatal Medicine
Person: Paid Staff - Academic Staff, Paid Staff - azM-employee, Unpaid Staff - Academic Staff AZM
Research output
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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Snijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A. M., Stumpel, C., Õunap, K., Reinson, K., Seaby, E. G., McKee, S., Burton, B., Kim, K., van Hagen, J. M., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E. H., Sheppard, S. E., & 29 others, 12 Jan 2023, In: HGG advances. 4, 1, 9 p., 100157.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Web of Science) -
Alitretinoin as a treatment modality for ichthyosis in women of childbearing age - a case series and review of the literature
Clabbers, J., van Oosten, N., Bolling, M., Vreeburg, M., van Geel, M., Steijlen, P. & Gostynski, A., 1 Sept 2023, In: Dermatology. 13 p.Research output: Contribution to journal › (Systematic) Review article › peer-review
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All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience
Faas, B. H. W., Westra, D., de Munnik, S. A., van Rij, M., Marcelis, C., Joosten, S., Krapels, I., Vernimmen, V., Heijligers, M., Willemsen, M. H., de Leeuw, N., Rinne, T., Pfundt, R., Smeekens, S. P., Stegmann, S. P. A., Macville, M., Sikkel, E., Coumans, A., Wijnberger, L., Derks, I., & 6 others, Apr 2023, In: Prenatal Diagnosis. 43, p. 527-543 17 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access