1. De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders. (December 2014) Authors: Vaher, Ulvi; Nõukas, Margit; Nikopensius, Tiit; Kals, Mart; Annilo, Tarmo; Nelis, Mari; Õunap, Katrin; Reimand, Tiia; Talvik, Inga; Ilves, Pilvi; Piirsoo, Andres; Seppet, Enn; Metspalu, Andres; Talvik, Tiina Journal: Journal of child neurology Issue: Volume 29:Number 12(2014:Dec.) Page Start: NP202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families. Issue 10 (18th August 2014) Authors: Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico A.; Guipponi, Michel; Vannier, Anne; Béna, Frédérique; Gimelli, Stefania; Stathaki, Elisavet; Temtamy, Samia; Mégarbané, André; Masri, Amira; Aglan, Mona S.; Zaki, Maha S.; Bottani, Armand; Fokstuen, Siv; Gwanmesia, Lorraine; Aliferis, Konst... Journal: Human mutation Issue: Volume 35:Issue 10(2014:Oct.) Page Start: 1203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. SARS-CoV-2 dual infection with Delta and Omicron variants in an immunocompetent host: a case report. (November 2022) Authors: Abroi, Aare; Gerst Talas, Ulvi; Pauskar, Merit; Shablinskaja, Arina; Reisberg, Tuuli; Niglas, Heiki; Päll, Taavi; Nelis, Mari; Tagen, Ingrid; Soodla, Pilleriin; Lutsar, Irja; Huik, Kristi Journal: International journal of infectious diseases Issue: Volume 124(2022) Page Start: 41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗