1. Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex. Issue 1 (11th October 2012) Authors: Hoogeveen‐Westerveld, Marianne; Ekong, Rosemary; Povey, Sue; Mayer, Karin; Lannoy, Nathalie; Elmslie, Frances; Bebin, Martina; Dies, Kira; Thompson, Catherine; Sparagana, Steven P.; Davies, Peter; van den Ouweland, Ans; Halley, Dicky; Nellist, Mark Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex. Issue 2 (7th January 2013) Authors: Hoogeveen‐Westerveld, Marianne; Ekong, Rosemary; Povey, Sue; Mayer, Karin; Lannoy, Nathalie; Elmslie, Frances; Bebin, Martina; Dies, Kira; Thompson, Catherine; Sparagana, Steven P.; Davies, Peter; van Eeghen, Agnies M.; Thiele, Elizabeth A.; van den Ouweland, Ans; Halley, Dicky; Nellist, Mark Journal: Human mutation Issue: Volume 34:Issue 2(2013:Feb.) Page Start: 409 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Issue 11 (16th September 2020) Authors: MacKenzie, Katherine C.; de Graaf, Bianca M.; Syrimis, Andreas; Zhao, Yuying; Brosens, Erwin; Mancini, Grazia M. S.; Schot, Rachel; Halley, Dicky; Wilke, Martina; Vøllo, Arve; Flinter, Frances; Green, Andrew; Mansour, Sahar; Pilch, Jacek; Stark, Zornitza; Zamba‐Papanicolaou, Eleni; Christophidou‐... Journal: Human mutation Issue: Volume 41:Issue 11(2020) Page Start: 1906 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Identification and Characterization of Aberrant GAA Pre‐mRNA Splicing in Pompe Disease Using a Generic Approach. Issue 1 (1st December 2014) Authors: Bergsma, Atze J.; Kroos, Marian; Hoogeveen‐Westerveld, Marianne; Halley, Dicky; van der Ploeg, Ans T.; Pijnappel, W. W. Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: 57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗