1. Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. Issue 1 (January 1996) Authors: Vrtel, R; Verhoef, S; Bouman, K; Maheshwar, M M; Nellist, M; van Essen, A J; Bakker, P L; Hermans, C J; Bink-Boelkens, M T; van Elburg, R M; Hoff, M; Lindhout, D; Sampson, J; Halley, D J; van den Ouweland, A M Journal: Journal of medical genetics Issue: Volume 33:Issue 1(1996) Page Start: 47 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The contribution of X-chromosome genomic imprinting to the bicuspid aortic valve and aortic coarctation prevalence in women with Turner syndrome. (25th November 2020) Authors: Klaskova, E; Vrtel, P; Vrtel, R; Adamova, K; Vrbicka, D.I.T.A; Zapletalova, J; Prochazka, M; Pavlicek, J; Lebl, J; Stara, V; Soucek, O; Snajderova, M; Hana, V Journal: European heart journal Issue: Volume 41:(2020)Supplement 2 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗