1. Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia. (13th July 2018) Authors: Järviaho, Tekla; Zachariadis, Vasilios; Tesi, Bianca; Chiang, Samuel; Bryceson, Yenan T.; Möttönen, Merja; Niinimäki, Riitta; Bang, Benedicte; Rahikkala, Elisa; Taylan, Fulya; Uusimaa, Johanna; Harila‐Saari, Arja; Nordgren, Ann Journal: British journal of haematology Issue: Volume 185:Number 2(2019) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. Issue 1 (December 2015) Authors: Tesi, Bianca; Lagerstedt-Robinson, Kristina; Chiang, Samuel; Bdira, Eya; Abboud, Miguel; Belen, Burcu; Devecioglu, Omer; Fadoo, Zehra; Yeoh, Allen; Erichsen, Hans; Möttönen, Merja; Akar, Himmet; Hästbacka, Johanna; Kaya, Zuhre; Nunes, Susana; Patiroglu, Turkan; Sabel, Magnus; Saribeyoglu, Ebru; T... Journal: Genome medicine Issue: Volume 7:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗