1. An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito. Issue 4 (1st April 2000) Authors: Eussen, Bert H J; Bartalini, Gabriella; Bakker, Lida; Balestri, Paolo; Di Lucca, Carmela; Van Hemel, Jan O; Dauwerse, Hans; van den Ouweland, Ans M W; Ris-Stalpers, Carrie; Verhoef, Senno; Halley, Dicky J J; Fois, Alberto Journal: Journal of medical genetics Issue: Volume 37:Issue 4(2000) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. Issue 4 (1st April 1999) Authors: van Slegtenhorst, Marjon; Verhoef, Senno; Tempelaars, Anita; Bakker, Lida; Wang, Qi; Wessels, Marja; Bakker, Remco; Nellist, Mark; Lindhout, Dick; Halley, Dicky; van den Ouweland, Ans Journal: Journal of medical genetics Issue: Volume 36:Issue 4(1999) Page Start: 285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗