Search

Author/Creator Murumets, Ülle

1. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Issue 8 (2nd June 2016)

Authors:
Reinson, Karit; Õiglane‐Shlik, Eve; Talvik, Inga; Vaher, Ulvi; Õunapuu, Anne; Ennok, Margus; Teek, Rita; Pajusalu, Sander; Murumets, Ülle; Tomberg, Tiiu; Puusepp, Sanna; Piirsoo, Andres; Reimand, Tiia; Õunap, Katrin
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 8(2016)
Page Start:
2173
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Issue 4 (5th February 2020)

Authors:
Lilleväli, Hardo; Pajusalu, Sander; Wojcik, Monica H.; Goodrich, Julia; Collins, Ryan L.; Murumets, Ülle; Tammur, Pille; Blau, Nenad; Lilleväli, Kersti; Õunap, Katrin
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 4(2020)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗