1. A 69‐year‐old woman with Coffin–Siris syndrome. Issue 8 (28th July 2018) Authors: Määttänen, Laura; Hietala, Marja; Ignatius, Jaakko; Arvio, Maria Journal: American journal of medical genetics Issue: Volume 176:Issue 8(2018) Page Start: 1764 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and genetic characteristics of late-onset Huntington's disease. (April 2019) Authors: Bachoud-Lévi, Anne-Catherine; Bentivoglio, Anna-Rita; Biunno, Ida; Bonelli, Raphael M.; Bronzova, Juliana; Burgunder, Jean-Marc; Dunnett, Stephen B.; Ferreira, Joaquim J.; Frich, Jan; Giuliano, Joe; Handley, Olivia J.; Heiberg, Arvid; Illarioshkin, Sergey; Illmann, Torsten; Klempir, Jiri; Landweh... Journal: Parkinsonism & related disorders Issue: Volume 61(2019) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Placenta-mediated pregnancy complications are not associated with fetal or paternal factor V Leiden mutation. (November 2018) Authors: Nevalainen, Jaana; Ignatius, Jaakko; Savolainen, E.-R.; Ryynanen, Markku; Jarvenpaa, Jouko Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 230(2018) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene. Issue 6 (23rd April 2013) Authors: Syvänen, Johanna; Helenius, Ilkka; Hero, Matti; Mäkitie, Outi; Ignatius, Jaakko Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1491 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗