Search Results - "Terhal, P.A."

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review by van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.

“…De novo variants in the gene encoding cyclin‐dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID)…”
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Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features by Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.

“…Human immunodeficiency virus type I enhancer binding protein 2 ( HIVEP2 ) has been previously associated with intellectual disability and developmental delay…”
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