1. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. Issue 4 (1st April 2002) Authors: Rakkolainen, A; Ala-Mello, S; Kristo, P; Orpana, A; Järvelä, I Journal: Journal of medical genetics Issue: Volume 39:Issue 4(2002) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. Issue 4 (April 1998) Authors: Ala-Mello, S; Sankila, E M; Koskimies, O; de la Chapelle, A; Kääriäinen, H Journal: Journal of medical genetics Issue: Volume 35:Issue 4(1998) Page Start: 279 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗